ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.363+1G>T

dbSNP: rs118203372
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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 RCV001378743 SCV001576382 pathogenic Tuberous sclerosis 1 2023-10-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the TSC1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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 is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with tuberous sclerosis complex (PMID: 32461669; Invitae). ClinVar contains an entry for this variant (Variation ID: 49030). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV001378743 SCV002559888 likely pathogenic Tuberous sclerosis 1 2022-08-01 criteria provided, single submitter clinical testing This base paire substitution promote exon 5 skip of the TSC1 gene. However, exon 5 skip is an in-frame of 153 base paires, and is also observed in low frequency in wild type allele. This base paire substitution is not found in the general population.
Tuberous sclerosis database (TSC1) RCV000042281 SCV000066070 not provided Tuberous sclerosis syndrome no assertion provided curation

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