ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) (rs371908551)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189848 SCV000243501 uncertain significance not provided 2013-09-30 criteria provided, single submitter clinical testing p.Arg517Gln (CGG>CAG): c.1550 G>A in exon 15 of the TSC1 gene (NM_000368.4). The Arg517Gln missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a non-conservative amino acid substitution of a positively charged Arginine residue with an uncharged Glutamine residue; however, it alters a position that is not conserved across species and Glutamine is observed at this position in other species. In silico analysis predicts this variant is likely benign. Therefore, based on the currently available information, it is unclear whether Arg517Gln is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV000189848 SCV000641511 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing

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