ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1030-3C>G (rs118203488)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468767 SCV000552336 uncertain significance Tuberous sclerosis 1 2016-10-30 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the TSC1 gene. It does not directly change the encoded amino acid sequence of the TSC1 protein. This variant is not present in population databases (rs118203488, ExAC no frequency). This variant has been reported to segregate with very mild features of tuberous sclerosis complex in a single family (PMID: 20185476). ClinVar contains an entry for this variant (Variation ID: 48731). An experimental study has shown that this sequence change results in the insertion of 102 nucleotides into 60-80% of the mRNA transcripts derived from that allele, or 30-40% of all TSC1 mRNA (PMID: 20185476). In summary, this variant is a rare intronic change that partially disrupts RNA splicing. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC1) RCV000041978 SCV000065757 not provided Tuberous sclerosis syndrome no assertion provided curation

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