ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8941C>A (p.Leu2981Ile)

dbSNP: rs2149076096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018483 SCV002302843 uncertain significance Duchenne muscular dystrophy 2021-07-04 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 2981 of the DMD protein (p.Leu2981Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine.
Ambry Genetics RCV002372808 SCV002687433 uncertain significance Cardiovascular phenotype 2021-09-23 criteria provided, single submitter clinical testing The p.L2981I variant (also known as c.8941C>A), located in coding exon 60 of the DMD gene, results from a C to A substitution at nucleotide position 8941. The leucine at codon 2981 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004763316 SCV005369505 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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