ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter)

dbSNP: rs1060503016
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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 RCV001380948 SCV001579177 pathogenic not provided 2016-11-02 criteria provided, single submitter clinical testing Loss-of-function variants in SMARCB1 are known to be pathogenic. This particular variant has been reported in an individual with an atypical teratoid/rhabdoid tumor (PMID: 9892189). This sequence change creates a premature translational stop signal at codon 51 (p.Trp51*) of the SMARCB1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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