ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1762-1G>A

dbSNP: rs2145980126
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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 RCV001379876 SCV001577759 uncertain significance Rhabdoid tumor predisposition syndrome 2 2024-03-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 of the SMARCA4 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in the loss of 1 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. 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: 1068351). Studies have shown that disruption of this splice site results in the activation of a cryptic splice site in 11 (Invitae). 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.

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