ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val)

gnomAD frequency: 0.00001  dbSNP: rs886042492
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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) RCV000338363 SCV000334482 uncertain significance not provided 2015-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001352545 SCV001547106 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 1647 of the DYSF protein (p.Leu1647Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine 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. ClinVar contains an entry for this variant (Variation ID: 282820). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001828189 SCV002082355 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-08-18 no assertion criteria provided clinical testing

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