ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.707C>T (p.Pro236Leu)

dbSNP: rs1555753713
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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 RCV000546802 SCV000648161 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-06-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 236 of the SMARCA4 protein (p.Pro236Leu). 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: 470451). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Sema4, Sema4 RCV002256380 SCV002535220 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-10 criteria provided, single submitter curation
Ambry Genetics RCV002256380 SCV005506490 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-12 criteria provided, single submitter clinical testing The p.P236L variant (also known as c.707C>T), located in coding exon 3 of the SMARCA4 gene, results from a C to T substitution at nucleotide position 707. The proline at codon 236 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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