ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)

dbSNP: rs182538665
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713918 SCV000844564 uncertain significance not provided 2018-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000713918 SCV002000927 uncertain significance not provided 2020-03-17 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 RCV001797787 SCV002040683 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424739 SCV002731240 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-07 criteria provided, single submitter clinical testing The p.R718S variant (also known as c.2152C>A), located in coding exon 19 of the TSC2 gene, results from a C to A substitution at nucleotide position 2152. The arginine at codon 718 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well 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 RCV001797787 SCV003492482 benign Tuberous sclerosis 2 2023-11-09 criteria provided, single submitter clinical testing

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