ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.901A>G (p.Asn301Asp)

dbSNP: rs1347210597
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002771391 SCV003029672 uncertain significance Qualitative or quantitative defects of dysferlin 2020-09-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 269 of the DYSF protein (p.Asn269Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYSF-related conditions. 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 not 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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