ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.909_928del (p.Trp304fs)

dbSNP: rs137854012
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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 RCV001852884 SCV002237142 pathogenic Tuberous sclerosis 2 2020-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 11520734). This variant is also known as 903-922del20 in the literature. ClinVar contains an entry for this variant (Variation ID: 49404). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp304Phefs*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).
Tuberous sclerosis database (TSC2) RCV000042664 SCV000066459 not provided Tuberous sclerosis syndrome no assertion provided curation

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