ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1337A>G (p.His446Arg)

gnomAD frequency: 0.00023  dbSNP: rs72468699
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719836 SCV000235826 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19937601, 28416588)
Ambry Genetics RCV000243647 SCV000320017 likely benign Cardiovascular phenotype 2018-12-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000869409 SCV001010832 benign Duchenne muscular dystrophy 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168118 SCV001330688 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.
PreventionGenetics, part of Exact Sciences RCV004542772 SCV004760161 likely benign DMD-related disorder 2022-08-30 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).
Blueprint Genetics RCV000157165 SCV000206889 uncertain significance Left ventricular noncompaction cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157166 SCV000206890 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing
Natera, Inc. RCV001835674 SCV002090378 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-26 no assertion criteria provided clinical testing

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