ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu)

dbSNP: rs762139955
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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 RCV000561050 SCV000664293 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-09 criteria provided, single submitter clinical testing The p.P307L variant (also known as c.920C>T), located in coding exon 5 of the SMARCA4 gene, results from a C to T substitution at nucleotide position 920. The proline at codon 307 is replaced by leucine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858140 SCV002125142 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-11-02 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 307 of the SMARCA4 protein (p.Pro307Leu). This variant is present in population databases (rs762139955, gnomAD 0.001%). 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: 480689). 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.
Baylor Genetics RCV001858140 SCV004204975 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-06-04 criteria provided, single submitter clinical testing

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