ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1670T>C (p.Leu557Pro) (rs1064796040)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483843 SCV000572421 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing This variant is denoted TSC1 c.1670T>C at the cDNA level, p.Leu557Pro (L557P) at the protein level, and results in the change of a Leucine to a Proline (CTG>CCG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. TSC1 Leu557Pro was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Leucine and Proline differ in some properties, this is considered a semi-conservative amino acid substitution. TSC1 Leu557Pro occurs at a position that is not conserved and is not located in a known functional domain. In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether TSC1 Leu557Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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