ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1444-2A>G

dbSNP: rs45517174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201016 SCV000255874 pathogenic Tuberous sclerosis 2 2012-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000498319 SCV000589550 pathogenic not provided 2022-12-14 criteria provided, single submitter clinical testing Reported previously in multiple individuals with tuberous sclerosis complex (Jobert et al., 1997; Kwiatkowski et al., 2015); Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 25782670, 25525159, 24271014, 9412784)
Genome-Nilou Lab RCV000201016 SCV002040935 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042895 SCV000066691 not provided Tuberous sclerosis syndrome no assertion provided curation

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