ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter)

gnomAD frequency: 0.00001  dbSNP: rs759650391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821643 SCV000962412 uncertain significance Primary dilated cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln489*) 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. This variant is present in population databases (rs759650391, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 663710). 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.

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