ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)

dbSNP: rs886043900
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726165 SCV000701274 likely pathogenic not provided 2016-06-03 criteria provided, single submitter clinical testing
Counsyl RCV000597376 SCV000796175 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-12-04 criteria provided, single submitter clinical testing
Invitae RCV001214514 SCV001386198 pathogenic Qualitative or quantitative defects of dysferlin 2023-03-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 DYSF protein function. ClinVar contains an entry for this variant (Variation ID: 288438). This missense change has been observed in individual(s) with dysferlinopathy (PMID: 16100712, 19528035, 21522182, 27602406). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 621 of the DYSF protein (p.Gly621Arg).
Revvity Omics, Revvity RCV000726165 SCV003832002 likely pathogenic not provided 2022-04-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469244 SCV004194177 pathogenic Miyoshi muscular dystrophy 1 2023-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000597376 SCV002079834 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-10-06 no assertion criteria provided clinical testing

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