ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2042-177_2266del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216170 SCV001387950 likely pathogenic Tuberous sclerosis 1 2019-07-12 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exon 17 and part of exon 18 (c.2042-177_2266del) of the TSC1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with TSC1-related conditions. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). 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.

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