ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.940C>G (p.Arg314Gly)

dbSNP: rs764526102
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051755 SCV001215931 likely benign Duchenne muscular dystrophy 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374908 SCV002685008 uncertain significance Cardiovascular phenotype 2021-06-24 criteria provided, single submitter clinical testing The p.R314G variant (also known as c.940C>G), located in coding exon 9 of the DMD gene, results from a C to G substitution at nucleotide position 940. The arginine at codon 314 is replaced by glycine, an amino acid with dissimilar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.001% (1/181716) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.004% (1/27261) of Latino/ Admixed American alleles. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832475 SCV002090441 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-22 no assertion criteria provided clinical testing

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