ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1906G>C (p.Ala636Pro)

dbSNP: rs1600133106
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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 RCV001013579 SCV001174186 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-31 criteria provided, single submitter clinical testing The p.A636P variant (also known as c.1906G>C), located in coding exon 11 of the SMARCA4 gene, results from a G to C substitution at nucleotide position 1906. The alanine at codon 636 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001235153 SCV001407826 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 636 of the SMARCA4 protein (p.Ala636Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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).
Genome-Nilou Lab RCV001809908 SCV002056469 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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