ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4331T>C (p.Ile1444Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002332132 SCV002633299 uncertain significance Cardiovascular phenotype 2020-12-24 criteria provided, single submitter clinical testing The p.I1444T variant (also known as c.4331T>C), located in coding exon 31 of the DMD gene, results from a T to C substitution at nucleotide position 4331. The isoleucine at codon 1444 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.0005% (1/182503) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.0012% (1/81202) of non-Finnish European 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094652 SCV003026990 likely benign Duchenne muscular dystrophy 2024-04-16 criteria provided, single submitter clinical testing

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