ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4606G>A (p.Ala1536Thr)

dbSNP: rs2147098587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993570 SCV002249658 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1568 of the SMARCA4 protein (p.Ala1568Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1468110). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SMARCA4 protein function. 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.
Ambry Genetics RCV002331546 SCV002633956 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-26 criteria provided, single submitter clinical testing The p.A1568T variant (also known as c.4702G>A), located in coding exon 32 of the SMARCA4 gene, results from a G to A substitution at nucleotide position 4702. The alanine at codon 1568 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 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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