ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1151del (p.Pro384fs)

dbSNP: rs1837854100
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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 RCV001244607 SCV001417837 pathogenic Multiple endocrine neoplasia, type 2 2020-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro384Glnfs*29) in the RET gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RET are known to be pathogenic (PMID: 22174939, 22648184). This variant has not been reported in the literature in individuals with RET-related conditions. This variant is not present in population databases (ExAC no frequency).

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