ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1526C>T (p.Ala509Val)

dbSNP: rs1600068270
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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 RCV001012016 SCV001172415 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-27 criteria provided, single submitter clinical testing The p.A509V variant (also known as c.1526C>T), located in coding exon 8 of the SMARCA4 gene, results from a C to T substitution at nucleotide position 1526. The alanine at codon 509 is replaced by valine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001204920 SCV001376151 uncertain significance Rhabdoid tumor predisposition syndrome 2 2020-08-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 509 of the SMARCA4 protein (p.Ala509Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. 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. 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.
Genome-Nilou Lab RCV001809900 SCV002056439 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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