ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1156T>C (p.Ser386Pro)

gnomAD frequency: 0.00001  dbSNP: rs960610186
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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 RCV001052874 SCV001217108 uncertain significance Primary dilated cardiomyopathy 2019-02-14 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 386 of the TXNRD2 protein (p.Ser386Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TXNRD2-related conditions. This variant is not present in population databases (ExAC no frequency).

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