ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4403C>T (p.Pro1468Leu)

gnomAD frequency: 0.00002  dbSNP: rs762423563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644171 SCV000765861 benign Tuberous sclerosis 2 2022-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331190 SCV002629121 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-18 criteria provided, single submitter clinical testing The p.P1468L variant (also known as c.4403C>T), located in coding exon 33 of the TSC2 gene, results from a C to T substitution at nucleotide position 4403. The proline at codon 1468 is replaced by leucine, an amino acid with similar properties. This nucleotide position is well conserved in available vertebrate species. This amino acid position is well 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.

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