ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)

dbSNP: rs45472701
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201008 SCV000255911 pathogenic Tuberous sclerosis 2 2015-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336162 SCV002641135 pathogenic Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter clinical testing The p.Q1724* pathogenic mutation (also known as c.5170C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5170. This changes the amino acid from a glutamine to a stop codon within coding exon 40. This alteration was identified in an individual with a clinical diagnosis of tuberous sclerosis complex (TSC) (Beauchamp RL et al. Hum Mutat, 1998;12:408-16). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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 RCV000201008 SCV003441717 pathogenic Tuberous sclerosis 2 2023-07-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49950). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 9829910). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1724*) 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).
Tuberous sclerosis database (TSC2) RCV000043217 SCV000067018 not provided Tuberous sclerosis syndrome no assertion provided curation

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