ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)

dbSNP: rs773900333
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020474 SCV001181960 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-04 criteria provided, single submitter clinical testing The p.A1169T variant (also known as c.3505G>A), located in coding exon 29 of the TSC2 gene, results from a G to A substitution at nucleotide position 3505. The alanine at codon 1169 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001035302 SCV001198626 benign Tuberous sclerosis 2 2024-04-16 criteria provided, single submitter clinical testing
GeneDx RCV001759705 SCV001987278 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001035302 SCV002040779 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803366 SCV005427187 uncertain significance Tuberous sclerosis syndrome 2024-07-29 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 1169 of the TSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC2-related disorders in the literature. This variant has been identified in 1/250204 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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