ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs)

dbSNP: rs137854127
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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 RCV001388102 SCV001588961 pathogenic Tuberous sclerosis 2 2020-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu409Glyfs*10) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with tuberous sclerosis complex (PMID: 16981987). ClinVar contains an entry for this variant (Variation ID: 49147). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042402 SCV000066192 not provided Tuberous sclerosis syndrome no assertion provided curation

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