ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1754T>G (p.Ile585Ser)

gnomAD frequency: 0.00001  dbSNP: rs376238937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243370 SCV001416523 likely benign Duchenne muscular dystrophy 2024-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402773 SCV002711672 uncertain significance Cardiovascular phenotype 2022-02-28 criteria provided, single submitter clinical testing The p.I585S variant (also known as c.1754T>G), located in coding exon 15 of the DMD gene, results from a T to G substitution at nucleotide position 1754. The isoleucine at codon 585 is replaced by serine, an amino acid with dissimilar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.003% (7/205369) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.007% (2/28008) of Latino alleles. This amino acid position is highly 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.
Revvity Omics, Revvity RCV003145473 SCV003830061 uncertain significance not provided 2023-09-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835166 SCV002092238 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-06 no assertion criteria provided clinical testing

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