ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1523G>A (p.Arg508His)

gnomAD frequency: 0.00102  dbSNP: rs201391000
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242811 SCV000318405 likely benign Cardiovascular phenotype 2019-03-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV001705384 SCV000717760 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Invitae RCV000628824 SCV000749731 likely benign Primary dilated cardiomyopathy 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920010 SCV004730137 likely benign TXNRD2-related condition 2022-07-27 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).

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