ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1883G>A (p.Arg628His)

gnomAD frequency: 0.00002  dbSNP: rs774895427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165847 SCV000216596 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-05 criteria provided, single submitter clinical testing The p.R628H variant (also known as c.1883G>A), located in coding exon 17 of the TSC2 gene, results from a G to A substitution at nucleotide position 1883. The arginine at codon 628 is replaced by histidine, an amino acid with highly similar properties. This alteration was identified in an individual with a clinical diagnosis of tuberous sclerosis complex (Ng SY et al. Eur J Med Genet, 2022 Oct;65:104573). 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 RCV000531841 SCV000644293 likely benign Tuberous sclerosis 2 2023-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001548583 SCV001768517 uncertain significance not provided 2020-07-27 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 RCV000531841 SCV002039589 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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