ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3850G>A (p.Asp1284Asn)

gnomAD frequency: 0.00003  dbSNP: rs765989895
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021289 SCV001182887 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-16 criteria provided, single submitter clinical testing The p.D1284N variant (also known as c.3850G>A), located in coding exon 26 of the SMARCA4 gene, results from a G to A substitution at nucleotide position 3850. The aspartic acid at codon 1284 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001063627 SCV001228484 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-05-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 824300). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SMARCA4 protein function. This missense change has been observed in individual(s) with Coffin-Siris syndrome (PMID: 34906459). This variant is present in population databases (rs765989895, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1284 of the SMARCA4 protein (p.Asp1284Asn).
GeneDx RCV001552611 SCV001773326 uncertain significance not provided 2019-05-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23872584)
Genome-Nilou Lab RCV001809933 SCV002056884 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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