ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.395A>G (p.Gln132Arg)

gnomAD frequency: 0.00001  dbSNP: rs751455994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000999601 SCV001156304 uncertain significance Hypertrophic cardiomyopathy 2018-10-15 criteria provided, single submitter research This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband(s) identified with this variant. For further information please feel free to contact us.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858901 SCV002294150 likely benign Duchenne muscular dystrophy 2024-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994186 SCV005566443 uncertain significance Cardiovascular phenotype 2024-11-04 criteria provided, single submitter clinical testing The p.Q132R variant (also known as c.395A>G), located in coding exon 6 of the DMD gene, results from an A to G substitution at nucleotide position 395. The glutamine at codon 132 is replaced by arginine, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0005% (1/183380) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0012% (1/81832) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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