ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=)

gnomAD frequency: 0.00002  dbSNP: rs182644267
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226434 SCV000286120 benign Rhabdoid tumor predisposition syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381443 SCV000410516 likely benign Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565321 SCV000663950 likely benign Hereditary cancer-predisposing syndrome 2016-01-13 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.
GeneDx RCV001562786 SCV001785611 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808641 SCV002057116 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565321 SCV002535199 benign Hereditary cancer-predisposing syndrome 2021-02-18 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001562786 SCV004221237 benign not provided 2023-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955321 SCV004780847 likely benign SMARCA4-related disorder 2023-02-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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