ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)

gnomAD frequency: 0.00001  dbSNP: rs751490043
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226007 SCV000285485 likely benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019379 SCV001180727 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-23 criteria provided, single submitter clinical testing The p.P316Q variant (also known as c.947C>A), located in coding exon 9 of the TSC2 gene, results from a C to A substitution at nucleotide position 947. The proline at codon 316 is replaced by glutamine, an amino acid with similar properties. This alteration was identified in a cohort of 1040 individuals with advanced cancer diagnoses who underwent paired germline and tumor genetic testing (Mandelker D et al. JAMA, 2017 09;318:825-835). This variant has also been identified in at least one patient with a personal and family history of breast and/or ovarian cancer (Maxwell KN et al. Am J Hum Genet, 2016 May;98:801-817). 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.
GeneDx RCV001770191 SCV001993604 uncertain significance not provided 2019-05-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28873162)
Genome-Nilou Lab RCV000226007 SCV002041118 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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