ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1534C>T (p.His512Tyr)

gnomAD frequency: 0.00004  dbSNP: rs147136371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048801 SCV001212824 uncertain significance Duchenne muscular dystrophy 2022-05-01 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 512 of the DMD protein (p.His512Tyr). This variant is present in population databases (rs147136371, gnomAD 0.001%). 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: 845688). 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.
Fulgent Genetics, Fulgent Genetics RCV002489603 SCV002780135 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-07-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145291 SCV003834730 uncertain significance not provided 2020-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827307 SCV002090354 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-11-08 no assertion criteria provided clinical testing

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