ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val)

gnomAD frequency: 0.00001  dbSNP: rs1189744662
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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 RCV001309603 SCV001499108 uncertain significance Qualitative or quantitative defects of dysferlin 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 1956 of the DYSF protein (p.Phe1956Val). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001830253 SCV002080342 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-06-15 no assertion criteria provided clinical testing

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