ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5969C>T (p.Pro1990Leu)

gnomAD frequency: 0.00001  dbSNP: rs961227665
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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 RCV001315589 SCV001506167 uncertain significance Duchenne muscular dystrophy 2021-10-23 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1990 of the DMD protein (p.Pro1990Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1016566). 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"). 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. RCV001830295 SCV002093433 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-02-03 no assertion criteria provided clinical testing

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