ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs)

dbSNP: rs1588309702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803565 SCV000943443 pathogenic Tuberous sclerosis 1 2018-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser575Alafs*57) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). This variant has not been reported in the literature in individuals with TSC1-related disease.
Baylor Genetics RCV001292920 SCV001481618 pathogenic Lymphangiomyomatosis 2018-10-30 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000803565 SCV002040964 pathogenic Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing

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