ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2303T>C (p.Leu768Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV004566526 SCV005047047 likely pathogenic Rhabdoid tumor predisposition syndrome 2 criteria provided, single submitter clinical testing This variant has not been reported in the literature in association with disease and is not present in gnomAD. This variant is located in the DEXH-box ATPase domain in the encoded protein and therefore may be more likely to impact normal protein function (Fernando 2020 PMID: 33144586). Evolutionary conservation and computational prediction tools strongly support that this variant may be damaging to the protein. Further, missense variation in this gene is significantly constrained in the general population, suggesting it is not well tolerated (Z-score = 8.81; gnomAD v4.1.0). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.

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