ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.874G>A (p.Val292Ile)

dbSNP: rs1588326825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018271 SCV001179485 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-09 criteria provided, single submitter clinical testing The p.V292I variant (also known as c.874G>A), located in coding exon 7 of the TSC1 gene, results from a G to A substitution at nucleotide position 874. The valine at codon 292 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well 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 RCV001068993 SCV001234131 uncertain significance Tuberous sclerosis 1 2023-06-16 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt TSC1 protein function. ClinVar contains an entry for this variant (Variation ID: 822703). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 292 of the TSC1 protein (p.Val292Ile).
Genome-Nilou Lab RCV001068993 SCV002039454 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing

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