ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2788C>T (p.Pro930Ser)

dbSNP: rs1600279182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016609 SCV001177576 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-18 criteria provided, single submitter clinical testing The p.P930S variant (also known as c.2788C>T), located in coding exon 18 of the SMARCA4 gene, results from a C to T substitution at nucleotide position 2788. The proline at codon 930 is replaced by serine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004789339 SCV005402324 uncertain significance Rhabdoid tumor predisposition syndrome 2 2024-01-20 criteria provided, single submitter clinical testing The SMARCA4 c.2788C>T (p.Pro930Ser) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a deleterious effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with rhabdoid tumor predisposition syndrome. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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