ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val)

dbSNP: rs1442583354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647990 SCV000769800 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 1170 of the DYSF protein (p.Asp1170Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001829802 SCV002082285 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-06-25 no assertion criteria provided clinical testing

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