ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) (rs201206500)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468508 SCV000544356 likely benign Tuberous sclerosis 2 2020-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572428 SCV000675680 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-02 criteria provided, single submitter clinical testing The p.A1719T variant (also known as c.5155G>A), located in coding exon 39 of the TSC2 gene, results from a G to A substitution at nucleotide position 5155. The alanine at codon 1719 is replaced by threonine, an amino acid with similar properties. This alteration was identified in a cohort of individuals undergoing exome analysis for sporadic autism spectrum disorders in both the affected child and an unaffected parent (O'Roak BJ et al. Nat. Genet., 2011 Jun;43:585-9). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Tuberous sclerosis database (TSC2) RCV000055435 SCV000083656 not provided Autism spectrum disorder no assertion provided curation

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