ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4351del (p.Arg1451fs)

dbSNP: rs397514939
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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 RCV000550782 SCV000644532 pathogenic Tuberous sclerosis 2 2024-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1451Alafs*25) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 64920). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460650 SCV004205114 pathogenic Isolated focal cortical dysplasia type II 2022-11-21 criteria provided, single submitter clinical testing
GeneDx RCV005401315 SCV006060127 likely pathogenic not provided 2024-10-22 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; This variant is associated with the following publications: (PMID: 32647919, 35918040, 31031587)
Tuberous sclerosis database (TSC2) RCV000055122 SCV000083340 not provided Tuberous sclerosis syndrome no assertion provided curation

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