ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4911+5G>A

gnomAD frequency: 0.00001  dbSNP: rs534705500
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233257 SCV000286122 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-12-01 criteria provided, single submitter clinical testing This sequence change falls in intron 35 of the SMARCA4 gene. It does not directly change the encoded amino acid sequence of the SMARCA4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs534705500, gnomAD 0.02%). 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: 238499). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV001023409 SCV001185278 likely benign Hereditary cancer-predisposing syndrome 2023-07-10 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.
Genome-Nilou Lab RCV001808642 SCV002057017 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV002298545 SCV002588397 uncertain significance not provided 2022-04-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Also known as c.4911+5G>A
Baylor Genetics RCV000233257 SCV004204980 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-05-24 criteria provided, single submitter clinical testing

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