ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) (rs143895253)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552425 SCV000649699 uncertain significance Dysferlinopathy 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1504 of the DYSF protein (p.Val1504Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs143895253, ExAC 0.2%). This variant has not been reported in the literature in individuals with DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 471308). 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: "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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595695 SCV000701740 likely benign not specified 2016-09-28 criteria provided, single submitter clinical testing

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