ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.4328G>A (p.Arg1443Gln) (rs886054155)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000355759 SCV000410507 uncertain significance Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533881 SCV000648103 uncertain significance Rhabdoid tumor predisposition syndrome 2 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1443 of the SMARCA4 protein (p.Arg1443Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. 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 disease. ClinVar contains an entry for this variant (Variation ID: 328039). 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.
Laboratory of Molecular Genetics,CHU RENNES RCV000415015 SCV000493098 uncertain significance Obesity; intellectual deficiency no assertion criteria provided clinical testing

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