ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg)

gnomAD frequency: 0.00001  dbSNP: rs562443546
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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 RCV000568648 SCV000675665 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-05 criteria provided, single submitter clinical testing The p.Q1419R variant (also known as c.4256A>G), located in coding exon 33 of the TSC2 gene, results from an A to G substitution at nucleotide position 4256. The glutamine at codon 1419 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is 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 RCV000644236 SCV000765927 benign Tuberous sclerosis 2 2023-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001558891 SCV001780926 uncertain significance not provided 2019-08-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This substitution does not occur within known functional domains of the tuberin protein, where many pathogenic missense variants have been identified (Northrup et al., 2018; Au et al., 2007); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000644236 SCV002040813 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476253 SCV002783890 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-04 criteria provided, single submitter clinical testing

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