ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)

dbSNP: rs118203527
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201075 SCV000255849 pathogenic Tuberous sclerosis 1 2014-05-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090691 SCV001246369 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Invitae RCV000201075 SCV001395607 pathogenic Tuberous sclerosis 1 2023-09-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with TSC1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 48779). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu478Lysfs*53) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050).
GeneDx RCV001090691 SCV001767650 pathogenic not provided 2022-12-16 criteria provided, single submitter clinical testing 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 (gnomAD); This variant is associated with the following publications: (PMID: 27535533, 17304050)
Genome-Nilou Lab RCV000201075 SCV002041042 pathogenic Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000201075 SCV002581019 pathogenic Tuberous sclerosis 1 2022-06-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042026 SCV000065808 not provided Tuberous sclerosis syndrome no assertion provided curation

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