ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser)

gnomAD frequency: 0.00013  dbSNP: rs375068646
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354786 SCV000338486 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Invitae RCV000792613 SCV000931919 uncertain significance Qualitative or quantitative defects of dysferlin 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1660 of the DYSF protein (p.Gly1660Ser). This variant is present in population databases (rs375068646, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 285463). 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 with a positive predictive value of 95%. 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.
GeneDx RCV000354786 SCV002013312 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24438169)
Revvity Omics, Revvity RCV000354786 SCV003830863 uncertain significance not provided 2023-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828216 SCV002082356 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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