ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.772G>A (p.Val258Met)

gnomAD frequency: 0.00018  dbSNP: rs150345121
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249294 SCV000309705 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000733997 SCV000590085 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000532146 SCV000649743 uncertain significance Qualitative or quantitative defects of dysferlin 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 226 of the DYSF protein (p.Val226Met). This variant is present in population databases (rs150345121, gnomAD 0.02%). 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: 259085). 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. 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.
Eurofins Ntd Llc (ga) RCV000733997 SCV000862105 uncertain significance not provided 2018-06-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000733997 SCV003830853 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833275 SCV002079764 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-21 no assertion criteria provided clinical testing

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