ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys)

dbSNP: rs1014587956
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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 RCV001370391 SCV001566868 uncertain significance Tuberous sclerosis 1 2023-10-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 818 of the TSC1 protein (p.Asn818Lys). 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: 1060894). 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.
Ambry Genetics RCV002447486 SCV002732110 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-04 criteria provided, single submitter clinical testing The p.N818K variant (also known as c.2454C>G), located in coding exon 17 of the TSC1 gene, results from a C to G substitution at nucleotide position 2454. The asparagine at codon 818 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002504619 SCV002813351 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-10-27 criteria provided, single submitter clinical testing

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