ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe)

dbSNP: rs886051793
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000402137 SCV000395623 uncertain significance Tuberous sclerosis syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000698685 SCV000827365 benign Tuberous sclerosis 2 2023-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000698685 SCV002040750 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298377 SCV004001426 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The p.L1066F variant (also known as c.3196C>T), located in coding exon 27 of the TSC2 gene, results from a C to T substitution at nucleotide position 3196. The leucine at codon 1066 is replaced by phenylalanine, 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.
All of Us Research Program, National Institutes of Health RCV000402137 SCV004834430 uncertain significance Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing

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