ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1162G>T (p.Asp388Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1454929812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053887 SCV001218170 likely benign Duchenne muscular dystrophy 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320296 SCV002632324 uncertain significance Cardiovascular phenotype 2021-03-02 criteria provided, single submitter clinical testing The p.D388Y variant (also known as c.1162G>T), located in coding exon 11 of the DMD gene, results from a G to T substitution at nucleotide position 1162. The aspartic acid at codon 388 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% (1/182852) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.001% (1/81534) of non-Finnish European alleles. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274381 SCV001458498 uncertain significance Dystrophin deficiency 2020-09-16 no assertion criteria provided clinical testing

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