ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp)

dbSNP: rs375785710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821765 SCV000962534 uncertain significance Tuberous sclerosis 2 2018-07-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TSC2-related disease. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tryptophan at codon 1431 of the TSC2 protein (p.Ser1431Trp). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tryptophan.
Ambry Genetics RCV002332709 SCV002631006 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-30 criteria provided, single submitter clinical testing The p.S1431W variant (also known as c.4292C>G), located in coding exon 33 of the TSC2 gene, results from a C to G substitution at nucleotide position 4292. The serine at codon 1431 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002478923 SCV002777813 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-16 criteria provided, single submitter clinical testing

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