ClinVar Miner

Submissions for variant NM_001387283.1(SMARCA4):c.4245G>C (p.Gln1415His)

dbSNP: rs1600446366
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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 RCV001989285 SCV002281251 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-08-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1415 of the SMARCA4 protein (p.Gln1415His). 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: 1494350). 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.
Sema4, Sema4 RCV002255712 SCV002532959 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter curation
Ambry Genetics RCV002255712 SCV002628658 likely benign Hereditary cancer-predisposing syndrome 2023-10-26 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.

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