ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2231del (p.Pro744fs)

dbSNP: rs397515218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003626604 SCV004446103 pathogenic Tuberous sclerosis 2 2023-03-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro744Glnfs*27) 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: 65298). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000055520 SCV000083743 not provided Tuberous sclerosis syndrome no assertion provided curation

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