ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)

dbSNP: rs121964862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000013208 SCV000644245 pathogenic Tuberous sclerosis 2 2021-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 12399). This variant is also known as c.1450C>T . This premature translational stop signal has been observed in individual(s) with TSC2-related conditions (PMID: 10206124). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln478*) 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).
GeneDx RCV001839481 SCV002099586 pathogenic not provided 2022-02-16 criteria provided, single submitter clinical testing Identified in patients with tuberous sclerosis complex referred for genetic testing at GeneDx and in published literature (Verhoef et al., 1999).; Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29432982, 15798777, 25525159, 18978035, Xu2020[casereport], 10206124)
OMIM RCV000013208 SCV000033455 pathogenic Tuberous sclerosis 2 1999-04-01 no assertion criteria provided literature only
Tuberous sclerosis database (TSC2) RCV000042413 SCV000066204 not provided Tuberous sclerosis syndrome no assertion provided curation

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