ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4743C>T (p.Gly1581=)

gnomAD frequency: 0.00001  dbSNP: rs759862377
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539786 SCV000648132 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565255 SCV000672197 likely benign Hereditary cancer-predisposing syndrome 2016-06-18 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 RCV001809535 SCV002056225 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478176 SCV004220460 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000012 (3/248374 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on SMARCA4 mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant.
GenomeConnect - Invitae Patient Insights Network RCV003483666 SCV004228901 not provided Coffin-Siris syndrome; Small cell carcinoma of the ovary, hypercalcemic type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-08-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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