ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1298C>T (p.Ser433Phe)

dbSNP: rs397515187
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480338 SCV000565891 uncertain significance not provided 2018-11-26 criteria provided, single submitter clinical testing The S433F variant in the TSC2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The S433F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret S433F as a variant of uncertain significance.

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