ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1530_1531del (p.Asp510fs) (rs118203544)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227889 SCV000284678 pathogenic Tuberous sclerosis 1 2015-12-25 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 15 of the TSC1 mRNA (c.1530_1531delCA), causing a frameshift at codon 510. This creates a premature translational stop signal (p.Asp510Glufs*24) and is expected to result in an absent or disrupted protein product. Truncating variants in TSC1 are known to be pathogenic (PMID: 10533067, 10227394). This particular truncation has been reported in the literature in an individual affected with tuberous sclerosis complex (TSC) (PMID: 9242607). This variant is also known as 1750delCA in the literature and as c.1529_1530delAC in ClinVar (Variation ID:48798). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042045 SCV000065828 not provided Tuberous sclerosis syndrome no assertion provided curation

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