ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5540C>T (p.Ala1847Val)

dbSNP: rs1436866611
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648000 SCV000769810 uncertain significance Qualitative or quantitative defects of dysferlin 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1808 of the DYSF protein (p.Ala1808Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine 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: "Tolerated"; PolyPhen-2: "Possibly 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.

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