ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4775T>C (p.Met1592Thr)

gnomAD frequency: 0.00001  dbSNP: rs398123966
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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) RCV000723744 SCV000112530 uncertain significance not provided 2013-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553672 SCV000625906 likely benign Duchenne muscular dystrophy 2024-02-18 criteria provided, single submitter clinical testing
GeneDx RCV000080628 SCV000723165 likely benign not specified 2017-09-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV004019556 SCV004856037 uncertain significance Cardiovascular phenotype 2022-09-19 criteria provided, single submitter clinical testing The c.4775T>C (p.M1592T) alteration is located in exon 34 (coding exon 34) of the DMD gene. This alteration results from a T to C substitution at nucleotide position 4775, causing the methionine (M) at amino acid position 1592 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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