ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.478C>T (p.Arg160Cys)

dbSNP: rs1554819886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541026 SCV000641658 uncertain significance Tuberous sclerosis 1 2023-03-17 criteria provided, single submitter clinical testing 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: 466144). 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 arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 160 of the TSC1 protein (p.Arg160Cys). 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.
Ambry Genetics RCV002341337 SCV002640097 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-11 criteria provided, single submitter clinical testing The p.R160C variant (also known as c.478C>T), located in coding exon 4 of the TSC1 gene, results from a C to T substitution at nucleotide position 478. The arginine at codon 160 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002476152 SCV002790145 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-11-13 criteria provided, single submitter clinical testing

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