ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.488_489del (p.Phe163fs)

dbSNP: rs137854122
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478381 SCV000566483 pathogenic not provided 2019-07-02 criteria provided, single submitter clinical testing Reported previously in a patient with hypopigmented macules, facial angiofibromas, shagreen patch, subependymal nodules, cortical tubers, seizures, and kidney tumors (Au et al., 1998); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 9463313)
Invitae RCV000818975 SCV000959614 pathogenic Tuberous sclerosis 2 2019-11-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has been observed in several individuals affected with tuberous sclerosis complex (PMID: 9463313, 17304050, 21520333). ClinVar contains an entry for this variant (Variation ID: 49879). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe163Cysfs*25) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000818975 SCV002040915 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043145 SCV000066944 not provided Tuberous sclerosis syndrome no assertion provided curation

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