ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1205T>C (p.Ile402Thr)

dbSNP: rs1599996370
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824307 SCV000965200 uncertain significance Rhabdoid tumor predisposition syndrome 2 2022-02-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 665921). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 402 of the SMARCA4 protein (p.Ile402Thr).
Ambry Genetics RCV001010302 SCV001170477 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-15 criteria provided, single submitter clinical testing The p.I402T variant (also known as c.1205T>C), located in coding exon 6 of the SMARCA4 gene, results from a T to C substitution at nucleotide position 1205. The isoleucine at codon 402 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Genome-Nilou Lab RCV001809848 SCV002056428 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.