ClinVar Miner

Submissions for variant NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter)

dbSNP: rs1553578407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002527438 SCV003524812 pathogenic not provided 2022-06-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 446159). This premature translational stop signal has been observed in individual(s) with congenital myopathy (PMID: 27816943). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp172*) 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).
OMIM RCV000515157 SCV000611140 pathogenic Myopathy, centronuclear, 6, with fiber-type disproportion 2022-07-28 no assertion criteria provided literature only

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