ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter)

dbSNP: rs45469392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491994 SCV000579603 pathogenic Hereditary cancer-predisposing syndrome 2016-07-19 criteria provided, single submitter clinical testing The p.E1442* pathogenic mutation (also known as c.4324G>T), located in coding exon 33 of the TSC2 gene, results from a G to T substitution at nucleotide position 4324. This changes the amino acid from a glutamic acid to a stop codon within coding exon 33. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV003512050 SCV004316298 pathogenic Tuberous sclerosis 2 2023-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1442*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 427995). For these reasons, this variant has been classified as Pathogenic.

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