ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg)

dbSNP: rs1555778830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500325 SCV000597195 uncertain significance not specified 2015-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524299 SCV003346275 likely pathogenic Rhabdoid tumor predisposition syndrome 2 2022-05-31 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 436811). This missense change has been observed in individual(s) with Coffin-Siris syndrome (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 946 of the SMARCA4 protein (p.Pro946Arg).

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