ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)

dbSNP: rs1203864892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641962 SCV000763614 uncertain significance Tuberous sclerosis 1 2022-12-31 criteria provided, single submitter clinical testing 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. 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. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 534411). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1048 of the TSC1 protein (p.Pro1048Leu).
Fulgent Genetics, Fulgent Genetics RCV002499079 SCV002806801 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303034 SCV003993312 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-17 criteria provided, single submitter clinical testing The p.P1048L variant (also known as c.3143C>T), located in coding exon 21 of the TSC1 gene, results from a C to T substitution at nucleotide position 3143. The proline at codon 1048 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. 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.
All of Us Research Program, National Institutes of Health RCV004802323 SCV005426899 uncertain significance Tuberous sclerosis syndrome 2024-08-06 criteria provided, single submitter clinical testing

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