ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.968C>T (p.Ser323Leu) (rs886054151)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000402753 SCV000410462 uncertain significance Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000456323 SCV000548402 uncertain significance Rhabdoid tumor predisposition syndrome 2 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 323 of the SMARCA4 protein (p.Ser323Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. 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: 328022). 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"). 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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