ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.1108C>T (p.Arg370Cys) (rs1436490540)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567994 SCV000664254 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-24 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000765418 SCV000896702 uncertain significance Rhabdoid tumor predisposition syndrome 2; Mental retardation, autosomal dominant 16 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001234913 SCV001407574 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 370 of the SMARCA4 protein (p.Arg370Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 480659). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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