ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)

dbSNP: rs397514933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001853087 SCV002214867 pathogenic Tuberous sclerosis 2 2022-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp82*) 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 premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 24789117). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 64913).
Tuberous sclerosis database (TSC2) RCV000055114 SCV000083332 not provided Tuberous sclerosis syndrome no assertion provided curation

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