ClinVar Miner

Submissions for variant NM_020975.6(RET):c.668_669dup (p.Ser224Ter)

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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 RCV005121614 SCV005746463 pathogenic Multiple endocrine neoplasia, type 2 2024-03-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser224*) in the RET gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RET are known to be pathogenic (PMID: 22174939, 22648184). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RET-related conditions. For these reasons, this variant has been classified as Pathogenic.

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