ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)

gnomAD frequency: 0.00001  dbSNP: rs539710314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821522 SCV000962281 uncertain significance Rhabdoid tumor predisposition syndrome 2 2024-11-18 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 153 of the SMARCA4 protein (p.Pro153Leu). This variant is present in population databases (rs539710314, gnomAD 0.006%). This missense change has been observed in individual(s) with cancer (PMID: 28873162). ClinVar contains an entry for this variant (Variation ID: 663612). 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 tolerated. 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 RCV001022743 SCV001184513 likely benign Hereditary cancer-predisposing syndrome 2023-03-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001809840 SCV002056315 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001022743 SCV002532987 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-23 criteria provided, single submitter curation

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