ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2102T>G (p.Val701Gly)

dbSNP: rs1307425251
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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 RCV000690277 SCV000817958 uncertain significance Rhabdoid tumor predisposition syndrome 2 2021-06-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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 valine with glycine at codon 701 of the SMARCA4 protein (p.Val701Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine.

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