VCV000004327.26 - ClinVar

NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)

Germline

Classification

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.

(14)

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.

Pathogenic/Likely pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)

Variation ID: 4327 Accession: VCV000004327.26

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 1q22 1: 155235823 (GRCh38) [ NCBI UCSC ] 1: 155205614 (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	Oct 2, 2013	Feb 14, 2024	Dec 28, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_000157.4:c.1246G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000148.2:p.Gly416Ser	missense
NM_001005741.3:c.1246G>A	NP_001005741.1:p.Gly416Ser	missense
NM_001005742.3:c.1246G>A	NP_001005742.1:p.Gly416Ser	missense
NM_001171811.2:c.985G>A	NP_001165282.1:p.Gly329Ser	missense
NM_001171812.2:c.1099G>A	NP_001165283.1:p.Gly367Ser	missense
NC_000001.11:g.155235823C>T
NC_000001.10:g.155205614C>T
NG_009783.1:g.13875G>A
NG_042867.1:g.2285C>T
	P04062:p.Gly416Ser

... more HGVS ... less HGVS

Protein change

G416S, G329S, G367S

Other names

G377S

Canonical SPDI

NC_000001.11:155235822:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

Exome Aggregation Consortium (ExAC) 0.00001

The Genome Aggregation Database (gnomAD) 0.00001

The Genome Aggregation Database (gnomAD), exomes 0.00002

Links

ClinGen: CA253107 UniProtKB: P04062#VAR_003303 OMIM: 606463.0040 dbSNP: rs121908311 VarSome

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
Gene	OMIM	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.
GBA1		-	-	GRCh38 GRCh38 GRCh37	32	406
LOC106627981	-	-	-	GRCh38 GRCh38	-	360

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.
Gaucher disease type III	Pathogenic (1)	no assertion criteria provided	Mar 1, 2003	RCV000004572.3
Gaucher disease type I	Pathogenic (2)	criteria provided, single submitter	Apr 27, 2019	RCV000004571.7
Gaucher disease	Pathogenic (4)	criteria provided, multiple submitters, no conflicts	Jan 22, 2020	RCV000055772.12
not provided	Pathogenic/Likely pathogenic (4)	criteria provided, multiple submitters, no conflicts	Dec 28, 2023	RCV000723428.13
Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Pathogenic (1)	criteria provided, single submitter	-	RCV001004116.1
Abnormal bleeding Thrombocytopenia	Pathogenic (1)	no assertion criteria provided	May 1, 2020	RCV001270486.1
Gaucher disease perinatal lethal Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Lewy body dementia Parkinson disease, late-onset	Pathogenic (1)	criteria provided, single submitter	Sep 20, 2021	RCV002482828.1

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.
Pathogenic (Aug 09, 2018)	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) Method: clinical testing	Gaucher disease Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000917432.1 First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019	Publications: PubMed (2) PubMed: 10757640‚ 20846888 Comment: Variant summary: GBA c.1246G>A (p.Gly416Ser) results in a non-conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain of the encoded protein … (more) Variant summary: GBA c.1246G>A (p.Gly416Ser) results in a non-conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.4e-05 in 277220 control chromosomes (gnomAD). The variant, c.1246G>A, has been reported in the literature in multiple individuals affected with Gaucher Disease in the homozygous and compound heterozygous state. These data indicate that the variant is very likely to be associated with disease. A functional study showed the variant to have <10% activity compared to wild-type (Amaral_2000). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
Pathogenic (Jan 22, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: curation	Gaucher disease (Autosomal dominant inheritance) Affected status: unknown Allele origin: germline	Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard Accession: SCV001423053.2 First in ClinVar: Jul 19, 2020 Last updated: Feb 02, 2022	Publications: PubMed (5) PubMed: 16981045‚ 23430543‚ 25732996‚ 25946768‚ 17395504 Other databases https://erepo.clinicalgenome.org… https://erepo.clinicalgenome.org/evrepo/ui/interpretation/15d83011-90ae-4e67-8abf-85608e483a52 Comment: The p.Gly416Ser variant in GBA has been reported in at least 25 individuals with Gaucher disease (PMID: 25946768, 16981045, 23430543, 25732996, 17395504) and has been … (more) The p.Gly416Ser variant in GBA has been reported in at least 25 individuals with Gaucher disease (PMID: 25946768, 16981045, 23430543, 25732996, 17395504) and has been identified in 0.003% (4/129180) of European (non-Finnish) chromosomes and 0.002822% (1/35438) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs121908311). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant has also been reported in ClinVar (VariationID: 4327) as pathogenic by EGL Gene Diagnostics, OMIM, and Integrated Genetics. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. However, the homozygous occurrence of this variant in 9 affected individuals and the presence of this variant in combination with a reported pathogenic variant in 11 individuals with Gaucher disease increases the likelihood that the p.Gly416Ser variant is pathogenic (VariationID: 4290, 4288; PMID: 25946768, 16981045, 23430543, 25732996, 17395504). The phenotype of individuals homozygous and heterozygous for this variant is highly specific for Gaucher disease based on enzyme activity of less than 1.7 nmol/h/mg protein, consistent with disease (PMID: 25946768, 16981045, 25732996). In summary, this variant meets criteria to be classified as pathogenic for Gaucher disease in an autosomal recessive manner based on the presence of the variant in affected homozygotes and in combination with other pathogenic variants in affected individuals, the phenotype of affected individuals with the variant that is specific to the disease, and the low frequency of the variant in the general population. ACMG/AMP Criteria applied: PM3_very-strong, PM2, PP4 (Richards 2015). (less)
Pathogenic (Sep 20, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Lewy body dementia Parkinson disease, late-onset Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease perinatal lethal Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002777935.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Pathogenic (Dec 28, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV002125693.3 First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024	Publications: PubMed (7) PubMed: 8081401‚ 17395504‚ 20432762‚ 23430543‚ 25287185‚ 27632223‚ 29140481 Comment: This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 416 of the GBA protein (p.Gly416Ser). … (more) This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 416 of the GBA protein (p.Gly416Ser). This variant is present in population databases (rs121908311, gnomAD 0.003%). This missense change has been observed in individual(s) with Gaucher disease and/or Parkinson's disease (PMID: 8081401, 17395504, 20432762, 23430543, 25287185, 27632223, 29140481). It is commonly reported in individuals of Brazilian ancestry (PMID: 25287185). This variant is also known as p.Gly377Ser or G377S. ClinVar contains an entry for this variant (Variation ID: 4327). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GBA protein function. For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Apr 03, 2017)	criteria provided, single submitter (EGL Classification Definitions 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000700355.2 First in ClinVar: Jun 24, 2017 Last updated: Dec 15, 2018	Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GBA Number of individuals with the variant: 3 Sex: mixed
Pathogenic (Apr 27, 2019)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Gaucher disease, type 1 Affected status: yes Allele origin: unknown	Genomic Research Center, Shahid Beheshti University of Medical Sciences Accession: SCV000930234.1 First in ClinVar: Aug 04, 2019 Last updated: Aug 04, 2019	Geographic origin: Iran
Pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Affected status: unknown Allele origin: germline	Baylor Genetics Accession: SCV001162847.1 First in ClinVar: Feb 29, 2020 Last updated: Feb 29, 2020
Pathogenic (Apr 05, 2022)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV002578604.2 First in ClinVar: Oct 15, 2022 Last updated: Mar 04, 2023	Comment: 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: 8081401, … (more) 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: 8081401, 25946768, 16981045, 17395504, 23430543, 25732996, 29140481, 27717005, 20432762, 21742527, 33176831, 31467847, 27632223, 25287185, 10757640, 12595585, 22429443) (less)
Likely pathogenic (Jun 24, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV002018392.3 First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024
Pathogenic (Mar 01, 2003)	no assertion criteria provided Method: literature only	GAUCHER DISEASE, TYPE III Affected status: not provided Allele origin: germline	OMIM Accession: SCV000024746.2 First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2017	Publications: PubMed (3) PubMed: 10466427‚ 2569551‚ 12595585 Comment on evidence: In 3 Portuguese patients with type I Gaucher disease (230800), Amaral et al. (1999) identified homozygosity for a gly377-to-ser (G377S) substitution in the GBA gene. … (more) In 3 Portuguese patients with type I Gaucher disease (230800), Amaral et al. (1999) identified homozygosity for a gly377-to-ser (G377S) substitution in the GBA gene. All 3 had mild to moderate severity with severity score indices (SSI), as defined by Zimran et al. (1989), of 8, 14, and 10, respectively. One of them had had splenectomy at age 9; the other 2 had recognized onset at ages 39 and 48 years. G377S seems to be common in Iberian patients, representing 7% and 5% of alleles in Portuguese and Spanish patients, respectively, according to Amaral et al. (1999). Park et al. (2003) identified a heterozygous G377S mutation in patients with type III Gaucher disease (231000); they had additional pathogenic GBA mutations. (less)
Pathogenic (Mar 01, 2003)	no assertion criteria provided Method: literature only	GAUCHER DISEASE, TYPE I Affected status: not provided Allele origin: germline	OMIM Accession: SCV000024745.2 First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2017	Publications: PubMed (3) PubMed: 10466427‚ 2569551‚ 12595585 Comment on evidence: In 3 Portuguese patients with type I Gaucher disease (230800), Amaral et al. (1999) identified homozygosity for a gly377-to-ser (G377S) substitution in the GBA gene. … (more) In 3 Portuguese patients with type I Gaucher disease (230800), Amaral et al. (1999) identified homozygosity for a gly377-to-ser (G377S) substitution in the GBA gene. All 3 had mild to moderate severity with severity score indices (SSI), as defined by Zimran et al. (1989), of 8, 14, and 10, respectively. One of them had had splenectomy at age 9; the other 2 had recognized onset at ages 39 and 48 years. G377S seems to be common in Iberian patients, representing 7% and 5% of alleles in Portuguese and Spanish patients, respectively, according to Amaral et al. (1999). Park et al. (2003) identified a heterozygous G377S mutation in patients with type III Gaucher disease (231000); they had additional pathogenic GBA mutations. (less)
Pathogenic (May 01, 2020)	no assertion criteria provided Method: research	Thrombocytopenia Abnormal bleeding Affected status: yes Allele origin: germline	Birmingham Platelet Group; University of Birmingham Accession: SCV001450785.1 First in ClinVar: Dec 19, 2020 Last updated: Dec 19, 2020
Pathogenic (May 06, 2017)	no assertion criteria provided Method: clinical testing	Gaucher disease Affected status: unknown Allele origin: germline	Natera, Inc. Accession: SCV002086458.1 First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022
not provided (-)	no classification provided Method: literature only	Gaucher disease Affected status: unknown Allele origin: germline	GeneReviews Accession: SCV000086731.3 First in ClinVar: Oct 02, 2013 Last updated: Oct 29, 2022	Publications: Bookshelf: NBK1269 Bookshelf: NBK1269
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Comment:

Variant summary: GBA c.1246G>A (p.Gly416Ser) results in a non-conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.4e-05 in 277220 control chromosomes (gnomAD). The variant, c.1246G>A, has been reported in the literature in multiple individuals affected with Gaucher Disease in the homozygous and compound heterozygous state. These data indicate that the variant is very likely to be associated with disease. A functional study showed the variant to have <10% activity compared to wild-type (Amaral_2000). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

Comment:

The p.Gly416Ser variant in GBA has been reported in at least 25 individuals with Gaucher disease (PMID: 25946768, 16981045, 23430543, 25732996, 17395504) and has been identified in 0.003% (4/129180) of European (non-Finnish) chromosomes and 0.002822% (1/35438) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs121908311). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant has also been reported in ClinVar (VariationID: 4327) as pathogenic by EGL Gene Diagnostics, OMIM, and Integrated Genetics. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. However, the homozygous occurrence of this variant in 9 affected individuals and the presence of this variant in combination with a reported pathogenic variant in 11 individuals with Gaucher disease increases the likelihood that the p.Gly416Ser variant is pathogenic (VariationID: 4290, 4288; PMID: 25946768, 16981045, 23430543, 25732996, 17395504). The phenotype of individuals homozygous and heterozygous for this variant is highly specific for Gaucher disease based on enzyme activity of less than 1.7 nmol/h/mg protein, consistent with disease (PMID: 25946768, 16981045, 25732996). In summary, this variant meets criteria to be classified as pathogenic for Gaucher disease in an autosomal recessive manner based on the presence of the variant in affected homozygotes and in combination with other pathogenic variants in affected individuals, the phenotype of affected individuals with the variant that is specific to the disease, and the low frequency of the variant in the general population. ACMG/AMP Criteria applied: PM3_very-strong, PM2, PP4 (Richards 2015).

Comment:

This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 416 of the GBA protein (p.Gly416Ser). This variant is present in population databases (rs121908311, gnomAD 0.003%). This missense change has been observed in individual(s) with Gaucher disease and/or Parkinson's disease (PMID: 8081401, 17395504, 20432762, 23430543, 25287185, 27632223, 29140481). It is commonly reported in individuals of Brazilian ancestry (PMID: 25287185). This variant is also known as p.Gly377Ser or G377S. ClinVar contains an entry for this variant (Variation ID: 4327). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GBA protein function. For these reasons, this variant has been classified as Pathogenic.

Comment:

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: 8081401, 25946768, 16981045, 17395504, 23430543, 25732996, 29140481, 27717005, 20432762, 21742527, 33176831, 31467847, 27632223, 25287185, 10757640, 12595585, 22429443)

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:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Gaucher Disease.	Adam MP	-	2023	PMID: 20301446
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.	Robak LA	Brain : a journal of neurology	2017	PMID: 29140481
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.	Cilia R	Annals of neurology	2016	PMID: 27632223
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.	Mattošová S	The Israel Medical Association journal : IMAJ	2015	PMID: 25946768
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide.	Khan A	JIMD reports	2015	PMID: 25732996
Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil.	Chaves RG	Clinical genetics	2015	PMID: 25287185
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.	Siebert M	JIMD reports	2013	PMID: 23430543
Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases.	Miri-Moghaddam E	Blood cells, molecules & diseases	2011	PMID: 20846888
An unusual presentation of Gaucher's disease: aortic valve fibrosis in a patient homozygous for a rare G377S mutation.	Perić Z	Collegium antropologicum	2010	PMID: 20432762
Genetic and clinical features of patients with Gaucher disease in Hungary.	Erdos M	Blood cells, molecules & diseases	2007	PMID: 17395504
High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.	Rozenberg R	Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas	2006	PMID: 16981045
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.	Park JK	Pediatric research	2003	PMID: 12595585
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.	Amaral O	European journal of human genetics : EJHG	2000	PMID: 10757640
Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.	Amaral O	Clinical genetics	1999	PMID: 10466427
Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene.	Laubscher KH	Human mutation	1994	PMID: 8081401
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.	Zimran A	Lancet (London, England)	1989	PMID: 2569551
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GBA	-	-	-	-
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/15d83011-90ae-4e67-8abf-85608e483a52	-	-	-	-
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Text-mined citations for rs121908311 ...

These 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

ClinVar Genomic variation as it relates to human health

NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs121908311 ...