ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4613C>T (p.Pro1538Leu)

gnomAD frequency: 0.00002  dbSNP: rs1040362862
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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 RCV001049344 SCV001213390 likely benign Duchenne muscular dystrophy 2024-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339249 SCV002636573 uncertain significance Cardiovascular phenotype 2021-12-23 criteria provided, single submitter clinical testing The p.P1538L variant (also known as c.4613C>T), located in coding exon 33 of the DMD gene, results from a C to T substitution at nucleotide position 4613. The proline at codon 1538 is replaced by leucine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.001% (2/182904) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.002% (2/81555) of European (non-Finnish) 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 RCV003145293 SCV003830070 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273870 SCV001457455 uncertain significance Dystrophin deficiency 2020-09-16 no assertion criteria provided clinical testing

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