ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1832A>T (p.Gln611Leu)

dbSNP: rs1600132569
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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 RCV000808969 SCV000949103 uncertain significance Rhabdoid tumor predisposition syndrome 2 2018-09-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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. This variant has not been reported in the literature in individuals with SMARCA4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with leucine at codon 611 of the SMARCA4 protein (p.Gln611Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine.

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