ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
Variation ID: 13915 Accession: VCV000013915.37
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q11.21 10: 43113654 (GRCh38) [ NCBI UCSC ] 10: 43609102 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 May 1, 2024 Sep 6, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_020975.6:c.1858T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Cys620Arg missense NM_000323.2:c.1858T>C NP_000314.1:p.Cys620Arg missense NM_001355216.2:c.1096T>C NP_001342145.1:p.Cys366Arg missense NM_001406743.1:c.1858T>C NP_001393672.1:p.Cys620Arg missense NM_001406744.1:c.1858T>C NP_001393673.1:p.Cys620Arg missense NM_001406759.1:c.1858T>C NP_001393688.1:p.Cys620Arg missense NM_001406760.1:c.1858T>C NP_001393689.1:p.Cys620Arg missense NM_001406761.1:c.1729T>C NP_001393690.1:p.Cys577Arg missense NM_001406762.1:c.1729T>C NP_001393691.1:p.Cys577Arg missense NM_001406763.1:c.1858T>C NP_001393692.1:p.Cys620Arg missense NM_001406764.1:c.1729T>C NP_001393693.1:p.Cys577Arg missense NM_001406765.1:c.1858T>C NP_001393694.1:p.Cys620Arg missense NM_001406766.1:c.1570T>C NP_001393695.1:p.Cys524Arg missense NM_001406767.1:c.1570T>C NP_001393696.1:p.Cys524Arg missense NM_001406768.1:c.1729T>C NP_001393697.1:p.Cys577Arg missense NM_001406769.1:c.1462T>C NP_001393698.1:p.Cys488Arg missense NM_001406770.1:c.1570T>C NP_001393699.1:p.Cys524Arg missense NM_001406771.1:c.1420T>C NP_001393700.1:p.Cys474Arg missense NM_001406772.1:c.1462T>C NP_001393701.1:p.Cys488Arg missense NM_001406773.1:c.1420T>C NP_001393702.1:p.Cys474Arg missense NM_001406774.1:c.1333T>C NP_001393703.1:p.Cys445Arg missense NM_001406775.1:c.1132T>C NP_001393704.1:p.Cys378Arg missense NM_001406776.1:c.1132T>C NP_001393705.1:p.Cys378Arg missense NM_001406777.1:c.1132T>C NP_001393706.1:p.Cys378Arg missense NM_001406778.1:c.1132T>C NP_001393707.1:p.Cys378Arg missense NM_001406779.1:c.961T>C NP_001393708.1:p.Cys321Arg missense NM_001406780.1:c.961T>C NP_001393709.1:p.Cys321Arg missense NM_001406781.1:c.961T>C NP_001393710.1:p.Cys321Arg missense NM_001406782.1:c.961T>C NP_001393711.1:p.Cys321Arg missense NM_001406783.1:c.832T>C NP_001393712.1:p.Cys278Arg missense NM_001406784.1:c.868T>C NP_001393713.1:p.Cys290Arg missense NM_001406786.1:c.832T>C NP_001393715.1:p.Cys278Arg missense NM_001406787.1:c.961T>C NP_001393716.1:p.Cys321Arg missense NM_001406788.1:c.673T>C NP_001393717.1:p.Cys225Arg missense NM_001406789.1:c.673T>C NP_001393718.1:p.Cys225Arg missense NM_001406790.1:c.673T>C NP_001393719.1:p.Cys225Arg missense NM_001406792.1:c.409T>C NP_001393721.1:p.Cys137Arg missense NM_001406793.1:c.409T>C NP_001393722.1:p.Cys137Arg missense NM_001406794.1:c.409T>C NP_001393723.1:p.Cys137Arg missense NM_020629.2:c.1858T>C NP_065680.1:p.Cys620Arg missense NM_020630.7:c.1858T>C NP_065681.1:p.Cys620Arg missense NC_000010.11:g.43113654T>C NC_000010.10:g.43609102T>C NG_007489.1:g.41586T>C LRG_518:g.41586T>C LRG_518t1:c.1858T>C LRG_518p1:p.Cys620Arg LRG_518t2:c.1858T>C LRG_518p2:p.Cys620Arg P07949:p.Cys620Arg - Protein change
- C620R, C366R, C137R, C321R, C474R, C524R, C278R, C445R, C378R, C225R, C290R, C488R, C577R
- Other names
- p.C620R:TGC>CGC
- Canonical SPDI
- NC_000010.11:43113653:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3522 | 3642 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
criteria provided, single submitter
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May 21, 2023 | RCV000014935.29 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 19, 2022 | RCV000568259.7 | |
Likely pathogenic (1) |
no assertion criteria provided
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Jan 1, 2013 | RCV000736276.6 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Aug 15, 2023 | RCV000182580.21 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Sep 6, 2023 | RCV000232285.16 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 29, 2023 | RCV003324711.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 3, 2018 | RCV000826204.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jan 03, 2018)
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criteria provided, single submitter
Method: clinical testing
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Aganglionic megacolon
Multiple endocrine neoplasia, type 2 (Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000967762.1
First in ClinVar: Aug 31, 2019 Last updated: Aug 31, 2019 |
Comment:
The p.Cys620Arg variant in RET has been reported in over 30 individuals with cli nical features of multiple endocrine neoplasia type 2A (MEN2A; Mathiesen 2017, … (more)
The p.Cys620Arg variant in RET has been reported in over 30 individuals with cli nical features of multiple endocrine neoplasia type 2A (MEN2A; Mathiesen 2017, C huang 2016, Heilman 2016, Yeganeh 2015, Virtanen 2013, Frank-Raue 2011, Moore 20 09, Fialkowski 2008, Hofstra 2000, Schuffenecker 1994) and was absent from large population databases. The variant segregated with the disease in >50 affected r elatives (Mathiesen 2017, Vaclavikova 2012, Moore 2009, Fialkowski 2008, Hofstra 2000, Romeo 1998, Mulligan 1994). Multiple individuals with this variant were a lso determined to have Hirschsprung disease. This variant has also been reported by other clinical laboratories in ClinVar (Variation ID#13915). In vitro functi onal studies provide some evidence that the p.Cys620Arg variant may impact prote in function (Arighi 2004, Chappuis-Flament 1998, Ito 1997). Mouse animal models have shown that this variant causes pre-cancerous lesions in the adrenal gland a nd C-cell hyperplasia in aged mice in heterozygotes, and kidney agenesis and int estinal aganglionosis in homozygotes (Yin 2007, Carniti 2006). In summary, this variant meets criteria to be classified as pathogenic for MEN2A in an autosomal dominant manner based upon segregation studies, absence from controls, and funct ional evidence. This variant is also associated with a risk of developing Hirsch sprung disease. Pathogenic variants in exon 10 of RET, especially affecting codo ns 618 and 620, often cause both MEN 2A and Hirschsprung disease (Eng 1996, Amer ican Thyroid Association Guidelines Task Force 2009). ACMG/AMP Criteria applied (Richards 2015): PS4, PP1_Strong, PM2, PM5, PS3_Moderate, PP3. (less)
Number of individuals with the variant: 2
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Pathogenic
(May 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001449927.1
First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020 |
Number of individuals with the variant: 1
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Pathogenic
(Dec 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000234932.16
First in ClinVar: Jul 05, 2015 Last updated: May 06, 2023 |
Comment:
Published functional studies demonstrate a damaging effect: auto-kinase and phoshorylation activities, increased proliferation activity, impaired protein maturation, decreased cell surface expression, mouse model demonstrating tumorigenesis … (more)
Published functional studies demonstrate a damaging effect: auto-kinase and phoshorylation activities, increased proliferation activity, impaired protein maturation, decreased cell surface expression, mouse model demonstrating tumorigenesis and intestinal hypoganglionosis (Ito 1997, Chappuis-Flament 1998, Arighi 2004, Carniti 2006, Yin 2007); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 9384613, 9067749, 9230192, 7835899, 18209889, 19853744, 17514199, 17623957, 21986619, 23744765, 30763276, 16158949, 20979234, 29020875, 12711285, 33340421, 7633441, 16565500, 19336503, 18206480, 15355438, 21765987, 18062802, 20152359, 7881414, 22584707, 20516206, 9681852, 7874109, 25694125, 9090527, 9824583, 17021738, 22584721, 25810047, 7915165, 17372903, 18063059, 8909322, 17316110, 14715928, 9879991, 22897442, 31510104, 31447099, 32179705, 33178136, 30787465, 34987852, 17188172, 11955539, 30349395, 27207748, 11564857, 27847096, 19469690, 8918855, 33754314, 17102091, 15744028, 10790203, 14633923) (less)
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Pathogenic
(Aug 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hirschsprung disease, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
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Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
Accession: SCV004030449.1
First in ClinVar: Sep 03, 2023 Last updated: Sep 03, 2023 |
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Pathogenic
(Sep 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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Multiple endocrine neoplasia, type 2
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000290535.11
First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 620 of the RET protein … (more)
This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 620 of the RET protein (p.Cys620Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Hirschsprung disease and/or multiple endocrine neoplasia type 2 / medullary thyroid carcinoma (PMID: 7874109, 7881414, 9090527, 9681852, 10790203, 19336503, 21765987, 21986619). This variant is also known as the "Janus mutation". ClinVar contains an entry for this variant (Variation ID: 13915). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects RET function (PMID: 9230192, 9879991, 14715928). This variant disrupts the p.Cys620 amino acid residue in RET. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9230192, 9879991, 14715928). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000886055.2
First in ClinVar: Dec 06, 2016 Last updated: Feb 20, 2024 |
Comment:
The RET c.1858T>C, p.Cys620Arg variant (rs77316810) is reported in the literature in multiple individuals affected with multiple endocrine neoplasia type 2A (MEN2A) and/or familial medullary … (more)
The RET c.1858T>C, p.Cys620Arg variant (rs77316810) is reported in the literature in multiple individuals affected with multiple endocrine neoplasia type 2A (MEN2A) and/or familial medullary thyroid carcinoma (FMTC) (Donis-Keller 1993, Boedeker 2009, Hedayati 2011, Vaclavikova 2012). This variant is also reported in ClinVar (Variation ID: 13915). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.897). Based on the above information, the variant is classified as pathogenic. References: Boedeker CC et al. Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. J Clin Endocrinol Metab. 2009 Jun;94(6):1938-44. PMID: 19336503. Donis-Keller H et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet. 1993 Jul;2(7):851-6. PMID: 8103403. Hedayati M et al. Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. J Thyroid Res. 2011:264248. PMID: 21765987. Vaclavikova E et al. Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. Pediatr Surg Int. 2012 Feb;28(2):123-8. PMID: 21986619. (less)
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Pathogenic
(Apr 19, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000664463.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.C620R pathogenic mutation (also known as c.1858T>C), located in coding exon 10 of the RET gene, results from a T to C substitution at … (more)
The p.C620R pathogenic mutation (also known as c.1858T>C), located in coding exon 10 of the RET gene, results from a T to C substitution at nucleotide position 1858. The cysteine at codon 620 is replaced by arginine, an amino acid with highly dissimilar properties. This alteration has been described in multiple families with RET-associated phenotypes including multiple endocrine neoplasia type 2A (MEN2A), familial medullary thyroid cancer (FMTC), and Hirschsprung disease (HSCR) (Schuffenecker I et al. Hum. Mol. Genet. 1994 Nov;3(11):1939-43; Pelet A et al. J. Med. Genet. 2005 Mar;42(3):e18; Boedeker CC et al. J. Clin. Endocrinol. Metab. 2009 Jun;94(6):1938-44; Hedayati M et al. J Thyroid Res 2011; 264248; Vaclavikova E et al. Pediatr. Surg. Int. 2012 Feb;28(2):123-8). This mutation is located at codon 620, a well-described mutation hotspot site, and has been categorized by the American Thyroid Association as having moderate risk for MTC (formerly category B) and is associated with a pheochromocytoma risk of 13%–24% (Wells et al. Thyroid. 2015;25(6):567-610). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Dec 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Multiple endocrine neoplasia, type 2
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002050817.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
Variant summary: RET c.1858T>C (p.Cys620Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Variant summary: RET c.1858T>C (p.Cys620Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248804 control chromosomes (gnomAD). c.1858T>C has been reported in the literature in multiple individuals and families affected with Multiple Endocrine Neoplasia Type 2, Familial Medullary Thyroid Carcinoma and Hirschsprung Disease (e.g. Mulligan_1994, Hedayati_2011, Mathiesen_2017). These data indicate that the variant is very likely to be associated with disease. Experimental evidence evaluating an impact on protein function demonstrated that C620R-expressing cells are unable to migrate, differentiate, and be protected from apoptosis in response to GDNF but they possess ligand-independent rapid proliferation activity, providing an explanation for the ability of the variant to lead to both gain- and loss-of-function RET-associated diseases (Mograbi_2001, Arighi_2004). Six ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550387.4
First in ClinVar: Jul 23, 2022 Last updated: Aug 18, 2023 |
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Pathogenic
(May 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
Affected status: yes
Allele origin:
germline
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Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
Accession: SCV003930400.1
First in ClinVar: Jun 17, 2023 Last updated: Jun 17, 2023 |
Number of individuals with the variant: 1
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Pathogenic
(Sep 04, 2013)
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no assertion criteria provided
Method: literature only
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MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000035191.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
See 164761.0007. Based on the partial sequence of the RET gene, this mutation was known as CYS366ARG.
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Likely pathogenic
(Jan 01, 2013)
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no assertion criteria provided
Method: research
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Hirschsprung disease
Affected status: yes
Allele origin:
unknown
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Human Genomics Unit, Institute for molecular medicine Finland (FIMM)
Accession: SCV000864573.1
First in ClinVar: Jan 22, 2019 Last updated: Jan 22, 2019 |
Number of individuals with the variant: 1
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant. | Virtanen VB | European journal of medical genetics | 2019 | PMID: 30031151 |
Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study. | Mathiesen JS | Clinical epidemiology | 2018 | PMID: 30349395 |
Founder Effect of the RET(C611Y) Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study. | Mathiesen JS | Thyroid : official journal of the American Thyroid Association | 2017 | PMID: 29020875 |
Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma. | Heilmann AM | Oncology | 2016 | PMID: 27207748 |
Skewed mutational spectrum of RET proto-oncogene Exon10 in Iranian patients with medullary thyroid carcinoma. | Yeganeh MZ | Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2015 | PMID: 25694125 |
Thyroid cancer and co-occurring RET mutations in Hirschsprung disease. | Virtanen VB | Endocrine-related cancer | 2013 | PMID: 23744765 |
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. | Vaclavikova E | Pediatric surgery international | 2012 | PMID: 21986619 |
Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. | Hedayati M | Journal of thyroid research | 2011 | PMID: 21765987 |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. | Frank-Raue K | Human mutation | 2011 | PMID: 20979234 |
Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease. | Moore SW | Journal of pediatric surgery | 2009 | PMID: 19853744 |
Medullary thyroid cancer: management guidelines of the American Thyroid Association. | American Thyroid Association Guidelines Task Force | Thyroid : official journal of the American Thyroid Association | 2009 | PMID: 19469690 |
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. | Boedeker CC | The Journal of clinical endocrinology and metabolism | 2009 | PMID: 19336503 |
RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. | Fialkowski EA | Journal of pediatric surgery | 2008 | PMID: 18206480 |
C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes. | Yin L | International journal of cancer | 2007 | PMID: 17372903 |
The Ret(C620R) mutation affects renal and enteric development in a mouse model of Hirschsprung's disease. | Carniti C | The American journal of pathology | 2006 | PMID: 16565500 |
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease. | Pelet A | Journal of medical genetics | 2005 | PMID: 15744028 |
Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease. | Arighi E | Molecular endocrinology (Baltimore, Md.) | 2004 | PMID: 14715928 |
The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis. | Mograbi B | Molecular and cellular biology | 2001 | PMID: 11564857 |
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems. | Hofstra RM | Human mutation | 2000 | PMID: 10790203 |
Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. | Chappuis-Flament S | Oncogene | 1998 | PMID: 9879991 |
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. | Romeo G | Journal of internal medicine | 1998 | PMID: 9681852 |
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. | Ito S | Cancer research | 1997 | PMID: 9230192 |
Frequency of RET mutations in long- and short-segment Hirschsprung disease. | Seri M | Human mutation | 1997 | PMID: 9090527 |
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. | Eng C | JAMA | 1996 | PMID: 8918855 |
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. | Angrist M | Human molecular genetics | 1995 | PMID: 7633441 |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. | Mulligan LM | Human molecular genetics | 1994 | PMID: 7881414 |
RET proto-oncogene mutations in French MEN 2A and FMTC families. | Schuffenecker I | Human molecular genetics | 1994 | PMID: 7874109 |
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Text-mined citations for rs77316810 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.