ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser)

dbSNP: rs886044266
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000269161 SCV000344206 uncertain significance not provided 2016-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246861 SCV001420249 uncertain significance Qualitative or quantitative defects of dysferlin 2022-10-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 289789). This missense change has been observed in individual(s) with Limb-Girdle Muscular Dystrophy (PMID: 30564623). 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 serine, which is neutral and polar, at codon 1863 of the DYSF protein (p.Gly1863Ser).
Revvity Omics, Revvity RCV000269161 SCV003830864 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835767 SCV002080332 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-08-10 no assertion criteria provided clinical testing

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