ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.398C>T (p.Pro133Leu)

dbSNP: rs2145772612
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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 RCV002048565 SCV002298352 uncertain significance Rhabdoid tumor predisposition syndrome 2 2021-08-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 133 of the SMARCA4 protein (p.Pro133Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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