ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.932C>A (p.Pro311His)

dbSNP: rs776158460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322882 SCV001513772 uncertain significance Tuberous sclerosis 1 2024-07-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 311 of the TSC1 protein (p.Pro311His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1022914). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004570780 SCV005054398 uncertain significance Isolated focal cortical dysplasia type II 2024-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004951537 SCV005523337 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-12 criteria provided, single submitter clinical testing The p.P311H variant (also known as c.932C>A), located in coding exon 8 of the TSC1 gene, results from a C to A substitution at nucleotide position 932. The proline at codon 311 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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