ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9716A>G (p.His3239Arg)

gnomAD frequency: 0.00005  dbSNP: rs765865134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239108 SCV001411958 uncertain significance Duchenne muscular dystrophy 2022-03-15 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 3239 of the DMD protein (p.His3239Arg). This variant is present in population databases (rs765865134, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 964806). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
AiLife Diagnostics, AiLife Diagnostics RCV002224034 SCV002502955 uncertain significance not provided 2021-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166487 SCV003853634 uncertain significance Cardiovascular phenotype 2022-11-10 criteria provided, single submitter clinical testing The p.H3239R variant (also known as c.9716A>G), located in coding exon 67 of the DMD gene, results from an A to G substitution at nucleotide position 9716. The histidine at codon 3239 is replaced by arginine, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of <0.01% (2205378) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was <0.01% (1/28049) of Latino/Admixed American 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828914 SCV002077644 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-07-16 no assertion criteria provided clinical testing

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