ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1513G>A (p.Ala505Thr)

dbSNP: rs1555762079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556383 SCV000647953 uncertain significance Rhabdoid tumor predisposition syndrome 2 2022-06-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). ClinVar contains an entry for this variant (Variation ID: 470247). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 505 of the SMARCA4 protein (p.Ala505Thr).
Ambry Genetics RCV000567307 SCV000672163 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-13 criteria provided, single submitter clinical testing The p.A505T variant (also known as c.1513G>A), located in coding exon 8 of the SMARCA4 gene, results from a G to A substitution at nucleotide position 1513. The alanine at codon 505 is replaced by threonine, 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.
Genome-Nilou Lab RCV001809486 SCV002056438 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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