ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)

gnomAD frequency: 0.00004  dbSNP: rs781015830
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171433 SCV000221631 likely pathogenic not provided criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000171433 SCV000226623 uncertain significance not provided 2014-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000259130 SCV000723864 likely benign not specified 2017-10-25 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.
Illumina Laboratory Services, Illumina RCV001168818 SCV001331446 uncertain significance Dilated cardiomyopathy 3B 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001239735 SCV001412630 likely benign Duchenne muscular dystrophy 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415727 SCV002725275 uncertain significance Cardiovascular phenotype 2023-11-20 criteria provided, single submitter clinical testing The p.P706Q variant (also known as c.2117C>A), located in coding exon 17 of the DMD gene, results from a C to A substitution at nucleotide position 2117. The proline at codon 706 is replaced by glutamine, an amino acid with similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.003% (6/182983) total alleles studied, with 3 hemizygotes observed. The highest observed frequency was 0.01% (2/19059) of South Asian alleles. This amino acid position is 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.
PreventionGenetics, part of Exact Sciences RCV004539577 SCV004759688 likely benign DMD-related disorder 2023-09-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001239735 SCV004807245 likely benign Duchenne muscular dystrophy 2024-03-26 criteria provided, single submitter clinical testing

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