ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3874T>C (p.Ser1292Pro)

dbSNP: rs1166042912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001858828 SCV002313149 benign Tuberous sclerosis 2 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354904 SCV002622441 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-06 criteria provided, single submitter clinical testing The p.S1292P variant (also known as c.3874T>C), located in coding exon 31 of the TSC2 gene, results from a T to C substitution at nucleotide position 3874. The serine at codon 1292 is replaced by proline, an amino acid with similar properties. 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.

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