ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.663+1G>A

dbSNP: rs118203419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484162 SCV000568368 pathogenic not provided 2019-09-26 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 15798777, 12853839, 10227394, 17304050)
Labcorp Genetics (formerly Invitae), Labcorp RCV000686448 SCV000813967 likely pathogenic Tuberous sclerosis 1 2018-04-11 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49076). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 7 of the TSC1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Genome-Nilou Lab RCV000686448 SCV002039577 pathogenic Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042329 SCV000066118 not provided Malignant tumor of urinary bladder no assertion provided curation

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