ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys)

dbSNP: rs1845695519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214291 SCV001385966 uncertain significance Tuberous sclerosis 1 2023-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 468 of the TSC1 protein (p.Ser468Cys). 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: 943989). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001773478 SCV001992223 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001214291 SCV002039242 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033927 SCV005034619 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-16 criteria provided, single submitter clinical testing The p.S468C variant (also known as c.1403C>G), located in coding exon 12 of the TSC1 gene, results from a C to G substitution at nucleotide position 1403. The serine at codon 468 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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