ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)

dbSNP: rs1440361406
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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 RCV001017831 SCV001178985 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-27 criteria provided, single submitter clinical testing The p.A998S variant (also known as c.2992G>T), located in coding exon 26 of the TSC2 gene, results from a G to T substitution at nucleotide position 2992. The alanine at codon 998 is replaced by serine, an amino acid with similar properties. In a cohort of 300 deceased patients, who underwent whole genome sequencing for 60 autosomal dominant cancer predisposition genes, this variant was detected and classified as uncertain significance by the authors. However, the specific phenotype of the patient(s) with this alteration was not reported (He KY et al. PLoS One, 2016 Dec;11:e0167847). 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001239016 SCV001411861 benign Tuberous sclerosis 2 2024-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001239016 SCV002040738 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001805973 SCV002050526 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533)
Baylor Genetics RCV003461364 SCV004204517 uncertain significance Isolated focal cortical dysplasia type II 2023-10-27 criteria provided, single submitter clinical testing

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