ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2350G>T (p.Gly784Trp)

dbSNP: rs2146279050
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001966675 SCV002254035 likely pathogenic Rhabdoid tumor predisposition syndrome 2 2022-03-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 784 of the SMARCA4 protein (p.Gly784Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with small cell carcinoma of the ovary (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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