ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4951_4957del (p.Asn1651fs) (rs1060500950)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469350 SCV000544459 pathogenic Tuberous sclerosis 2 2016-08-08 criteria provided, single submitter clinical testing This sequence change delete 7 nucleotide in exon 38 of the TSC2 mRNA (c.4951_4957delAATGACT), causing a frameshift at codon 1651. This creates a premature translational stop signal (p.Asn1651Profs*19) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.

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