ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2572G>A (p.Val858Ile)

dbSNP: rs1845329722
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203070 SCV001374216 uncertain significance Tuberous sclerosis 1 2023-09-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 934639). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 858 of the TSC1 protein (p.Val858Ile).
Ambry Genetics RCV002429866 SCV002743067 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter clinical testing The p.V858I variant (also known as c.2572G>A), located in coding exon 18 of the TSC1 gene, results from a G to A substitution at nucleotide position 2572. The valine at codon 858 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.
Baylor Genetics RCV003473737 SCV004204440 uncertain significance Isolated focal cortical dysplasia type II 2023-09-07 criteria provided, single submitter clinical testing

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