subjects mutated among 2600 FH index cases screened = 3 , family member = 1 / /Software predictions: Conflicting
ClinVar Genomic variation as it relates to human health
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
Germline
Classification
Help
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.
(13)
Help
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.
Conflicting classifications of pathogenicity
Pathogenic(2); Likely pathogenic(7); Uncertain significance(1)
Pathogenic(2); Likely pathogenic(7); Uncertain significance(1)
13
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
Variation ID: 251973 Accession: VCV000251973.23
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 19p13.2 19: 11116197 (GRCh38) [ NCBI UCSC ] 19: 11226873 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Dec 17, 2016 May 1, 2024 Oct 25, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000527.5:c.1690A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000518.1:p.Asn564Asp missense NM_001195798.2:c.1690A>G NP_001182727.1:p.Asn564Asp missense NM_001195799.2:c.1567A>G NP_001182728.1:p.Asn523Asp missense NM_001195800.2:c.1186A>G NP_001182729.1:p.Asn396Asp missense NM_001195803.2:c.1309A>G NP_001182732.1:p.Asn437Asp missense NC_000019.10:g.11116197A>G NC_000019.9:g.11226873A>G NG_009060.1:g.31817A>G LRG_274:g.31817A>G LRG_274t1:c.1690A>G LRG_274p1:p.Asn564Asp - Protein change
- N564D, N396D, N437D, N523D
- Other names
-
NP_000518.1:p.N564D
- Canonical SPDI
- NC_000019.10:11116196:A:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
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. |
|||
| LDLR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4075 | 4351 | |
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. |
|---|---|---|---|---|
| Pathogenic/Likely pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Dec 12, 2022 | RCV000238267.11 | |
| Likely pathogenic (3) |
criteria provided, single submitter
|
Dec 6, 2022 | RCV001699266.4 | |
| Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 25, 2023 | RCV001177566.13 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Feb 16, 2023 | RCV002411085.3 |
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. |
|
|---|---|---|---|---|---|
|
Likely pathogenic
(Mar 25, 2016)
|
criteria provided, single submitter
Method: literature only
|
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
LDLR-LOVD, British Heart Foundation
Accession: SCV000295580.2
First in ClinVar: Jul 29, 2016 Last updated: May 03, 2018 |
Number of individuals with the variant: 1
|
|
|
Likely pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Hypercholesterolemia, familial, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Robarts Research Institute, Western University
Accession: SCV000484717.1
First in ClinVar: Dec 17, 2016 Last updated: Dec 17, 2016 |
Number of individuals with the variant: 1
|
|
|
Likely pathogenic
(Dec 16, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hypercholesterolemia, familial, 1
Affected status: yes
Allele origin:
germline
|
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix
Accession: SCV000503385.1
First in ClinVar: Dec 17, 2016 Last updated: Dec 17, 2016 |
Comment:
subjects mutated among 2600 FH index cases screened = 3 , family member = 1 / /Software predictions: Conflicting
Number of individuals with the variant: 3
|
|
|
Pathogenic
(Mar 30, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Hypercholesterolemia
Affected status: yes
Allele origin:
germline
|
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille
Accession: SCV000583863.1
First in ClinVar: Dec 17, 2016 Last updated: Dec 17, 2016
Comment:
ACMG Guidelines: Pathogenic (ii)
|
Number of individuals with the variant: 7
Clinical Features:
Hyperbetalipoproteinemia (present) , Hypercholesterolemia (present)
Indication for testing: Familial Hypercholesterolemia
Sex: mixed
Geographic origin: France
Comment on evidence:
Dutch Lipid Clinic Scoring : Definite FH
Secondary finding: no
|
|
|
Likely pathogenic
(Feb 14, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hypercholesterolemia, familial, 1
Affected status: yes
Allele origin:
unknown
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV002102440.1
First in ClinVar: Mar 05, 2022 Last updated: Mar 05, 2022 |
Comment:
_x000D_ Criteria applied: PM5_STR, PS4_MOD, PM2_SUP, PP3
|
|
|
Likely pathogenic
(Dec 06, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004219956.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals affected with … (more)
This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals affected with familial hypercholesterolemia (PMIDs: 33740630 (2021), 16250003 (2005)). The variant has been reported to segregate with familial hypercholesterolemia in an affected family (PMID: 33992589 (2021)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as likely pathogenic. (less)
|
|
|
Likely pathogenic
(Dec 12, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hypercholesterolemia, familial, 1
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003831299.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
|
|
|
Pathogenic
(Oct 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Familial hypercholesterolemia
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001374151.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 564 of the LDLR protein … (more)
This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 564 of the LDLR protein (p.Asn564Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with familial hypercholesterolemia (PMID: 16250003; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 251973). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LDLR protein function. This variant disrupts the p.Asn564 amino acid residue in LDLR. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). 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)
|
|
|
Likely pathogenic
(Oct 25, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Familial hypercholesterolemia
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001341796.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces asparagine with aspartic acid at codon 564 of the LDLR protein. This variant is also known as p.Asn543Asp in the mature … (more)
This missense variant replaces asparagine with aspartic acid at codon 564 of the LDLR protein. This variant is also known as p.Asn543Asp in the mature protein. This variant alters a conserved asparagine residue in the LDLR type B repeat 4 of EGF precursor homology domain of the LDLR protein (a.a. 529-572), where pathogenic missense variants are found enriched (ClinVar-LDLR). Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over 10 individuals affected with familial hypercholesterolemia (PMID: 16250003, 21310417, 33740630, 33992589; ClinVar SCV001374151.4, SCV000583863.1; communications with external laoratories). It has been shown that this variant segregates with disease in five affected individuals in two families (PMID: 33992589; ClinVar SCV001374151.4). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Different variants affecting the same codon, p.Asn564Ser and p.Asn564His, are considered to be disease-causing (ClinVar variation ID: 224616, 3737), suggesting that asparagine at this position is important for LDLR protein function. Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
|
|
|
Uncertain significance
(Feb 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002715374.3
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.N564D variant (also known as c.1690A>G), located in coding exon 11 of the LDLR gene, results from an A to G substitution at nucleotide … (more)
The p.N564D variant (also known as c.1690A>G), located in coding exon 11 of the LDLR gene, results from an A to G substitution at nucleotide position 1690. The asparagine at codon 564 is replaced by aspartic acid, an amino acid with highly similar properties. This alteration has been reported in individuals with concerns for familial hypercholesterolemia (FH), including segregating in one family (Fouchier SW et al. Hum Mutat, 2005 Dec;26:550-6; Cabot E et al. J Clin Lipidol, 2021 Apr;15:447-450; Leren TP et al. Atherosclerosis, 2021 Apr;322:61-66). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: research
|
Familial hypercholesterolemia
Affected status: unknown
Allele origin:
germline
|
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
Accession: SCV000606485.1
First in ClinVar: Sep 30, 2017 Last updated: Sep 30, 2017 |
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001922167.1 First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021 |
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001963161.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
|
|
| click to load more click to collapse | |||||
Comment:
Comment:
_x000D_ Criteria applied: PM5_STR, PS4_MOD, PM2_SUP, PP3
Comment:
This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals affected with familial hypercholesterolemia (PMIDs: 33740630 (2021), 16250003 (2005)). The variant has been reported to segregate with familial hypercholesterolemia in an affected family (PMID: 33992589 (2021)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as likely pathogenic.
Comment:
This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 564 of the LDLR protein (p.Asn564Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with familial hypercholesterolemia (PMID: 16250003; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 251973). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LDLR protein function. This variant disrupts the p.Asn564 amino acid residue in LDLR. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). 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.
Comment:
This missense variant replaces asparagine with aspartic acid at codon 564 of the LDLR protein. This variant is also known as p.Asn543Asp in the mature protein. This variant alters a conserved asparagine residue in the LDLR type B repeat 4 of EGF precursor homology domain of the LDLR protein (a.a. 529-572), where pathogenic missense variants are found enriched (ClinVar-LDLR). Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over 10 individuals affected with familial hypercholesterolemia (PMID: 16250003, 21310417, 33740630, 33992589; ClinVar SCV001374151.4, SCV000583863.1; communications with external laoratories). It has been shown that this variant segregates with disease in five affected individuals in two families (PMID: 33992589; ClinVar SCV001374151.4). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Different variants affecting the same codon, p.Asn564Ser and p.Asn564His, are considered to be disease-causing (ClinVar variation ID: 224616, 3737), suggesting that asparagine at this position is important for LDLR protein function. Based on the available evidence, this variant is classified as Likely Pathogenic.
Comment:
The p.N564D variant (also known as c.1690A>G), located in coding exon 11 of the LDLR gene, results from an A to G substitution at nucleotide position 1690. The asparagine at codon 564 is replaced by aspartic acid, an amino acid with highly similar properties. This alteration has been reported in individuals with concerns for familial hypercholesterolemia (FH), including segregating in one family (Fouchier SW et al. Hum Mutat, 2005 Dec;26:550-6; Cabot E et al. J Clin Lipidol, 2021 Apr;15:447-450; Leren TP et al. Atherosclerosis, 2021 Apr;322:61-66). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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. |
Comment:
subjects mutated among 2600 FH index cases screened = 3 , family member = 1 / /Software predictions: Conflicting
Comment:
_x000D_ Criteria applied: PM5_STR, PS4_MOD, PM2_SUP, PP3
Comment:
This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals affected with familial hypercholesterolemia (PMIDs: 33740630 (2021), 16250003 (2005)). The variant has been reported to segregate with familial hypercholesterolemia in an affected family (PMID: 33992589 (2021)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as likely pathogenic.
Comment:
This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 564 of the LDLR protein (p.Asn564Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with familial hypercholesterolemia (PMID: 16250003; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 251973). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LDLR protein function. This variant disrupts the p.Asn564 amino acid residue in LDLR. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). 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.
Comment:
This missense variant replaces asparagine with aspartic acid at codon 564 of the LDLR protein. This variant is also known as p.Asn543Asp in the mature protein. This variant alters a conserved asparagine residue in the LDLR type B repeat 4 of EGF precursor homology domain of the LDLR protein (a.a. 529-572), where pathogenic missense variants are found enriched (ClinVar-LDLR). Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over 10 individuals affected with familial hypercholesterolemia (PMID: 16250003, 21310417, 33740630, 33992589; ClinVar SCV001374151.4, SCV000583863.1; communications with external laoratories). It has been shown that this variant segregates with disease in five affected individuals in two families (PMID: 33992589; ClinVar SCV001374151.4). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Different variants affecting the same codon, p.Asn564Ser and p.Asn564His, are considered to be disease-causing (ClinVar variation ID: 224616, 3737), suggesting that asparagine at this position is important for LDLR protein function. Based on the available evidence, this variant is classified as Likely Pathogenic.
Comment:
The p.N564D variant (also known as c.1690A>G), located in coding exon 11 of the LDLR gene, results from an A to G substitution at nucleotide position 1690. The asparagine at codon 564 is replaced by aspartic acid, an amino acid with highly similar properties. This alteration has been reported in individuals with concerns for familial hypercholesterolemia (FH), including segregating in one family (Fouchier SW et al. Hum Mutat, 2005 Dec;26:550-6; Cabot E et al. J Clin Lipidol, 2021 Apr;15:447-450; Leren TP et al. Atherosclerosis, 2021 Apr;322:61-66). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Use of commercial genetic testing to help reclassify LDL receptor variants in clinical practice: A case report. | Cabot E | Journal of clinical lipidology | 2021 | PMID: 33992589 |
| Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020. | Leren TP | Atherosclerosis | 2021 | PMID: 33740630 |
| An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. | Dušková L | Atherosclerosis | 2011 | PMID: 21310417 |
| Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. | Leigh SE | Annals of human genetics | 2008 | PMID: 18325082 |
| Update of the molecular basis of familial hypercholesterolemia in The Netherlands. | Fouchier SW | Human mutation | 2005 | PMID: 16250003 |
| Faster rates of DNA unwinding under alkaline conditions in xrs-5 cells may reflect chromatin structure alterations. | Schwartz JL | Mutation research | 1992 | PMID: 1374151 |
Text-mined citations for rs397509365 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 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.