ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr)

dbSNP: rs1314586455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057774 SCV001222286 uncertain significance Qualitative or quantitative defects of dysferlin 2022-02-24 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. 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. ClinVar contains an entry for this variant (Variation ID: 853041). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 296 of the DYSF protein (p.Ala296Thr).
Natera, Inc. RCV001827360 SCV002079779 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-13 no assertion criteria provided clinical testing

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