Submissions for variant NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)

gnomAD frequency: 0.00041  dbSNP: rs150395645

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244974	SCV000303101	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000724882	SCV000332137	uncertain significance	not provided	2018-06-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263039	SCV000449661	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000330019	SCV000449662	uncertain significance	Qualitative or quantitative defects of beta-sarcoglycan	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000724882	SCV000619857	uncertain significance	not provided	2024-05-06	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000815228	SCV000955676	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2E	2022-10-13	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 315 of the SGCB protein (p.Gly315Arg). This variant is present in population databases (rs150395645, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SGCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 255606). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV000724882	SCV001154191	uncertain significance	not provided	2019-04-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000815228	SCV003827622	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2E	2023-10-02	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000724882	SCV005410540	uncertain significance	not provided	2023-10-04	criteria provided, single submitter	clinical testing	PM2_moderate
Natera, Inc.	RCV000815228	SCV001462201	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2E	2020-01-06	no assertion criteria provided	clinical testing