ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2689C>T (p.Arg897Ter)

dbSNP: rs1060500759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461915 SCV000543814 pathogenic Multiple endocrine neoplasia, type 2 2017-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in RET are known to be pathogenic (PMID: 22648184, 22174939). This sequence change creates a premature translational stop signal at codon 897 (p.Arg897*) of the RET gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV002221538 SCV002498866 pathogenic not provided 2022-04-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.Arg873Ter; This variant is associated with the following publications: (PMID: 25525159, 12632375)

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