ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2330A>G (p.His777Arg)

gnomAD frequency: 0.00001  dbSNP: rs759528809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047125 SCV001211061 likely benign Tuberous sclerosis 2 2023-08-09 criteria provided, single submitter clinical testing
GeneDx RCV001759768 SCV001988597 uncertain significance not provided 2019-04-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; 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 RCV001047125 SCV002040691 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451188 SCV002736336 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-23 criteria provided, single submitter clinical testing The p.H777R variant (also known as c.2330A>G), located in coding exon 20 of the TSC2 gene, results from an A to G substitution at nucleotide position 2330. The histidine at codon 777 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.

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