ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.416T>C (p.Ile139Thr)

dbSNP: rs2148807220
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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 RCV002031873 SCV002311482 uncertain significance Duchenne muscular dystrophy 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 139 of the DMD protein (p.Ile139Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DMD-related conditions. 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.
Ambry Genetics RCV002331651 SCV002632722 uncertain significance Cardiovascular phenotype 2022-07-28 criteria provided, single submitter clinical testing The p.I139T variant (also known as c.416T>C), located in coding exon 6 of the DMD gene, results from a T to C substitution at nucleotide position 416. The isoleucine at codon 139 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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