ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.694C>T (p.Pro232Ser)

gnomAD frequency: 0.00001  dbSNP: rs751846529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458732 SCV000544429 likely benign Tuberous sclerosis 2 2022-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365618 SCV002662247 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-17 criteria provided, single submitter clinical testing The p.P232S variant (also known as c.694C>T), located in coding exon 7 of the TSC2 gene, results from a C to T substitution at nucleotide position 694. The proline at codon 232 is replaced by serine, 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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