ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) (rs45474691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441153 SCV000520882 uncertain significance not provided 2017-11-07 criteria provided, single submitter clinical testing The S1704T variant has been reported previously in an individual with a clinical diagnosis of tuberous sclerosis complex (Niida et al., 1999). The S1704T variant is observed in 2/126,338 (0.0016%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). Functional studies suggest that the S1704T impacts the ability of the TSC2 protein to inhibit Wnt signaling (Mak et al., 2005). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, the S1704T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This variant has also been observed in a clinically unaffected adult relative of an individual referred for genetic testing at GeneDx. We interpret S1704T as a variant of uncertain significance.
Ambry Genetics RCV000565772 SCV000675634 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000441153 SCV000817414 likely benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042608 SCV000066402 not provided Tuberous sclerosis syndrome no assertion provided curation

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