ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu)

gnomAD frequency: 0.00002  dbSNP: rs778069675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520176 SCV000619583 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001085805 SCV000644445 benign Tuberous sclerosis 2 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020414 SCV001181890 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-20 criteria provided, single submitter clinical testing The p.P1162L variant (also known as c.3485C>T), located in coding exon 29 of the TSC2 gene, results from a C to T substitution at nucleotide position 3485. The proline at codon 1162 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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.
Genome-Nilou Lab RCV001085805 SCV002039757 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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