ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser) (rs45517255)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000336828 SCV000329785 pathogenic not provided 2016-06-17 criteria provided, single submitter clinical testing The R897S variant has been reported previously as a de novo variant in a patient with tuberous sclerosis complex (Rendtorff et al., 2005). Functional studies suggest that F897S impairs TSC2 protein function (Rendtorff et al., 2005; Hoogeveen-Westerveld et al., 2011). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R897S 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. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, F897S is interpreted to be a pathogenic variant.
Tuberous sclerosis database (TSC2) RCV000042856 SCV000066652 not provided Tuberous sclerosis syndrome no assertion provided curation

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