ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5380C>T (p.Leu1794Phe)

dbSNP: rs1558778541
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729831 SCV000857522 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Invitae RCV001862186 SCV002223319 uncertain significance Qualitative or quantitative defects of dysferlin 2020-11-17 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. 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"). This variant has not been reported in the literature in individuals with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 594524). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 1755 of the DYSF protein (p.Leu1755Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.
Revvity Omics, Revvity RCV000729831 SCV003831308 uncertain significance not provided 2020-11-27 criteria provided, single submitter clinical testing

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