ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala)

gnomAD frequency: 0.00002  dbSNP: rs755461310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219391 SCV000274006 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-15 criteria provided, single submitter clinical testing The p.E1366A variant (also known as c.4097A>C), located in coding exon 33 of the TSC2 gene, results from an A to C substitution at nucleotide position 4097. The glutamic acid at codon 1366 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Illumina Laboratory Services, Illumina RCV000296255 SCV000395644 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 RCV000473048 SCV000544431 benign Tuberous sclerosis 2 2024-01-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000473048 SCV002039827 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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