ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)

dbSNP: rs1285778253
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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 RCV000570537 SCV000675486 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-11 criteria provided, single submitter clinical testing The p.I610V variant (also known as c.1828A>G), located in coding exon 16 of the TSC2 gene, results from an A to G substitution at nucleotide position 1828. The isoleucine at codon 610 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV001369719 SCV001566166 benign Tuberous sclerosis 2 2022-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001369719 SCV002040644 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459405 SCV004204524 uncertain significance Isolated focal cortical dysplasia type II 2023-10-20 criteria provided, single submitter clinical testing

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