ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.778C>T (p.Gln260Ter)

dbSNP: rs2146010499
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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 RCV001951291 SCV002241908 pathogenic not provided 2021-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln260*) in the SMARCB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMARCB1 are known to be pathogenic (PMID: 10521299, 21208904). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SMARCB1-related conditions. This variant is also known as INI1 c.778C>T. For these reasons, this variant has been classified as Pathogenic.

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