ClinVar Miner

Submissions for variant NM_020975.6(RET):c.318G>A (p.Trp106Ter)

dbSNP: rs2132664999
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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 RCV001381565 SCV001580005 pathogenic Multiple endocrine neoplasia, type 2 2021-10-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Hirschsprung disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp106*) 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).

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