ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)

gnomAD frequency: 0.00001  dbSNP: rs1249897804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223518 SCV001395674 likely benign Tuberous sclerosis 1 2022-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451523 SCV002616962 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-13 criteria provided, single submitter clinical testing The p.P1132S variant (also known as c.3394C>T), located in coding exon 21 of the TSC1 gene, results from a C to T substitution at nucleotide position 3394. The proline at codon 1132 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV002480737 SCV002790409 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-09-14 criteria provided, single submitter clinical testing

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