ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1165T>C (p.Ser389Pro)

gnomAD frequency: 0.00001  dbSNP: rs758595837
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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 RCV001909170 SCV002168589 uncertain significance Familial meningioma 2023-04-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1403668). This variant is present in population databases (rs758595837, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 389 of the SMARCE1 protein (p.Ser389Pro).
Ambry Genetics RCV004946853 SCV005509925 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-03 criteria provided, single submitter clinical testing The p.S389P variant (also known as c.1165T>C), located in coding exon 10 of the SMARCE1 gene, results from a T to C substitution at nucleotide position 1165. The serine at codon 389 is replaced by proline, 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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