ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3191T>C (p.Met1064Thr)

gnomAD frequency: 0.00005  dbSNP: rs140106769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731035 SCV000858805 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001241260 SCV001414266 likely benign Duchenne muscular dystrophy 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321730 SCV002609629 uncertain significance Cardiovascular phenotype 2020-07-28 criteria provided, single submitter clinical testing The p.M1064T variant (also known as c.3191T>C), located in coding exon 24 of the DMD gene, results from a T to C substitution at nucleotide position 3191. The methionine at codon 1064 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.003% (6/205056) total alleles studied, including one hemizygote. 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.
Natera, Inc. RCV001827985 SCV002088976 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-08-31 no assertion criteria provided clinical testing

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