ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.931C>A (p.Pro311Thr)

dbSNP: rs1332186256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019167 SCV001180490 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-01 criteria provided, single submitter clinical testing The p.P311T variant (also known as c.931C>A), located in coding exon 8 of the TSC1 gene, results from a C to A substitution at nucleotide position 931. The proline at codon 311 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001203395 SCV001374558 likely benign Tuberous sclerosis 1 2023-05-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001203395 SCV002039409 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing

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