ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4510C>T (p.His1504Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1469008607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618462 SCV000735615 uncertain significance Cardiovascular phenotype 2016-11-10 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV000630560 SCV000751524 uncertain significance Duchenne muscular dystrophy 2024-10-10 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 1504 of the DMD protein (p.His1504Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Duchenne or Becker muscular dystrophy (PMID: 19959795). ClinVar contains an entry for this variant (Variation ID: 518587). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DMD protein function with a negative predictive value of 95%. 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. RCV001829734 SCV002085317 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-12-06 no assertion criteria provided clinical testing

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