ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3056A>G (p.His1019Arg)

dbSNP: rs1555510317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018338 SCV001179563 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-13 criteria provided, single submitter clinical testing The p.H1019R variant (also known as c.3056A>G), located in coding exon 26 of the TSC2 gene, results from an A to G substitution at nucleotide position 3056. The histidine at codon 1019 is replaced by arginine, an amino acid with highly similar properties. 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.
Invitae RCV001231772 SCV001404304 uncertain significance Tuberous sclerosis 2 2019-08-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 1019 of the TSC2 protein (p.His1019Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.
Genome-Nilou Lab RCV001231772 SCV002040743 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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