ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1095A>C (p.Gln365His) (rs1800266)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000367474 SCV000333986 benign not specified 2015-09-07 criteria provided, single submitter clinical testing
GeneDx RCV001701930 SCV000518249 benign not provided 2021-02-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 7849724, 24274981, 19937601)
Invitae RCV000458417 SCV000560828 benign Duchenne muscular dystrophy 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618297 SCV000735861 likely benign Cardiovascular phenotype 2018-06-20 criteria provided, single submitter clinical testing Insufficient evidence
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000367474 SCV000966290 benign not specified 2019-01-18 criteria provided, single submitter clinical testing The p.Gln365His variant in DMD is classified as benign because it has been ident ified in 0.15% (29/19076) of South Asian chromosomes including 16 hemizygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP criteria applied: BA1.
Illumina Clinical Services Laboratory,Illumina RCV001168120 SCV001330690 uncertain significance Dilated cardiomyopathy 3B 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000367474 SCV001372390 benign not specified 2020-06-25 criteria provided, single submitter clinical testing Variant summary: DMD c.1095A>C (p.Gln365His) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00053 in 183391 control chromosomes, predominantly at a frequency of 0.0015 within the South Asian subpopulation in the gnomAD database. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 136 fold of the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophinopathies phenotype strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. c.1095A>C has been reported in the literature as a benign sequence variant in a cohort of patients enrolled in the United Dystrophinopathy Project, a multicenter research consortium, and in referral samples submitted for mutation analysis with a diagnosis of dystrophinopathy (Flanigan_2009). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (benign/likely benign, n=5). Based on the evidence outlined above, the variant was classified as benign.
Nilou-Genome Lab RCV000458417 SCV001737200 benign Duchenne muscular dystrophy 2021-05-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701930 SCV001931511 likely benign not provided no assertion criteria provided clinical testing

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