ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4904_4905del (p.Gln1635fs)

dbSNP: rs2147127143
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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 RCV001983268 SCV002244895 uncertain significance Rhabdoid tumor predisposition syndrome 2 2021-08-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the SMARCA4 gene (p.Gln1667Argfs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 13 amino acid(s) of the SMARCA4 protein and extend the protein by 15 additional amino acid residues. This variant has not been reported in the literature in individuals with SMARCA4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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