ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys)

dbSNP: rs775907195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001371611 SCV001568182 uncertain significance Qualitative or quantitative defects of dysferlin 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 968 of the DYSF protein (p.Met968Lys). This variant is present in population databases (rs775907195, gnomAD 0.006%). 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: 1061947). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001831305 SCV002082245 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-09-07 no assertion criteria provided clinical testing

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