ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4865A>G (p.Tyr1622Cys)

dbSNP: rs797045541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194348 SCV000247245 uncertain significance not specified 2014-10-02 criteria provided, single submitter clinical testing
Invitae RCV003765217 SCV004631338 uncertain significance Qualitative or quantitative defects of dysferlin 2023-09-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1583 of the DYSF protein (p.Tyr1583Cys). This variant is not present in population databases (gnomAD no frequency). 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: 210900). 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.

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