ClinVar Miner

Submissions for variant NM_020975.6(RET):c.936_939del (p.Arg312fs)

dbSNP: rs1837778621
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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 RCV001237306 SCV001410062 pathogenic Multiple endocrine neoplasia, type 2 2019-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg312Serfs*100) in the RET gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RET-related conditions. Loss-of-function variants in RET are known to be pathogenic (PMID: 22174939, 22648184).

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