ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2471A>T (p.Lys824Met)

dbSNP: rs2089622665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217052 SCV001388879 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-05-14 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 (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. This variant has not been reported in the literature in individuals with SMARCA4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with methionine at codon 824 of the SMARCA4 protein (p.Lys824Met). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and methionine.
Ambry Genetics RCV002447092 SCV002735591 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-01 criteria provided, single submitter clinical testing The p.K824M variant (also known as c.2471A>T), located in coding exon 16 of the SMARCA4 gene, results from an A to T substitution at nucleotide position 2471. The lysine at codon 824 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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