ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.696TGGCCC[2] (p.229GP[7])

dbSNP: rs372601826
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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 RCV000562877 SCV000664090 likely benign Hereditary cancer-predisposing syndrome 2021-03-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000706491 SCV000835545 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-12-06 criteria provided, single submitter clinical testing This variant, c.708_713del, results in the deletion of 2 amino acid(s) of the SMARCA4 protein (p.Gly243_Pro244del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 480573). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV000996744 SCV001992236 uncertain significance not provided 2019-02-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed in large population cohorts (Lek et al., 2016); but observed in multiple unaffected individuals undergoing testing at GeneDx; Has not been previously published as pathogenic or benign to our knowledge

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