ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs201206500
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468508 SCV000544356 likely benign Tuberous sclerosis 2 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572428 SCV000675680 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-13 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.
Genome-Nilou Lab RCV000468508 SCV002040255 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003162430 SCV003915101 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21572417, 21819393, 29617669)
Tuberous sclerosis database (TSC2) RCV000055435 SCV000083656 not provided Autism spectrum disorder no assertion provided curation

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