ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr)

gnomAD frequency: 0.00001  dbSNP: rs755061434
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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 RCV000807137 SCV000947176 likely benign Duchenne muscular dystrophy 2024-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994026 SCV005566500 uncertain significance Cardiovascular phenotype 2024-09-30 criteria provided, single submitter clinical testing The p.I2968T variant (also known as c.8903T>C), located in coding exon 59 of the DMD gene, results from a T to C substitution at nucleotide position 8903. The isoleucine at codon 2968 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of <0.01% (2/X179863) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (2/79816) 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001830761 SCV002080222 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-03-25 no assertion criteria provided clinical testing

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