ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1954G>T (p.Asp652Tyr)

gnomAD frequency: 0.00002  dbSNP: rs1488881909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052814 SCV001217042 likely benign Duchenne muscular dystrophy 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416394 SCV002718090 uncertain significance Cardiovascular phenotype 2022-12-27 criteria provided, single submitter clinical testing The p.D652Y variant (also known as c.1954G>T), located in coding exon 16 of the DMD gene, results from a G to T substitution at nucleotide position 1954. The aspartic acid at codon 652 is replaced by tyrosine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.0005% (1/183155) total alleles studied, with no hemizygotes observed. The highest observed frequency was 0.001% (1/81683) of European (non-Finnish) alleles. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827330 SCV002092211 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-11 no assertion criteria provided clinical testing

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