ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) (rs45517398)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190040 SCV000243714 pathogenic not provided 2014-02-21 criteria provided, single submitter clinical testing p.Leu1717Pro (CTG>CCG): c.5150 T>C in exon 40 of the TSC2 gene (NM_000548.3). The Leu1717Pro missense mutation in the TSC2 gene has been reported previously as a de novo mutation in a patient with cardiac rhabdomyomas, hypopigmentation of the skin, subependymal nodules, and seizures beginning at 1 year of age (Chen et al., 2005). This mutation is reported in the TSC2 LOVD database in three additional patients. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Leu1717Pro is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is highly conserved across species and many other missense mutations associated with TSC2-related disorders have been reported in this region of the protein. The variant is found in INFANT-EPI panel(s).
Tuberous sclerosis database (TSC2) RCV000042612 SCV000066406 not provided Tuberous sclerosis syndrome no assertion provided curation

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