ClinVar Miner

Submissions for variant NM_016653.3(MAP3K20):c.1313_1343dup (p.Pro452fs)

dbSNP: rs2106337664
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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 RCV001946648 SCV002230915 pathogenic not provided 2022-03-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAP3K20-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro452Phefs*15) in the MAP3K20 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAP3K20 are known to be pathogenic (PMID: 27816943).

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