ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)

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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 RCV002376079 SCV002685563 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-22 criteria provided, single submitter clinical testing The p.Y297S variant (also known as c.890A>C), located in coding exon 7 of the TSC1 gene, results from an A to C substitution at nucleotide position 890. The tyrosine at codon 297 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103541 SCV003446206 uncertain significance Tuberous sclerosis 1 2023-09-06 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 297 of the TSC1 protein (p.Tyr297Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1765070). 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. 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.
Baylor Genetics RCV003475361 SCV004204438 uncertain significance Isolated focal cortical dysplasia type II 2023-09-20 criteria provided, single submitter clinical testing

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