ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter)

gnomAD frequency: 0.00002  dbSNP: rs200162480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232891 SCV000289537 uncertain significance Primary dilated cardiomyopathy 2021-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 155853). This variant is present in population databases (rs200162480, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Arg441*) in the TXNRD2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TXNRD2 cause disease.
Blueprint Genetics RCV000143975 SCV000188856 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-12-20 no assertion criteria provided clinical testing

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