ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2393_2394dup (p.Arg799fs)

dbSNP: rs1114167463
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491491 SCV000579596 pathogenic Hereditary cancer-predisposing syndrome 2016-06-10 criteria provided, single submitter clinical testing The c.2393_2394dupAC pathogenic mutation, located in coding exon 21 of the TSC2 gene, results from a duplication of AC at nucleotide position 2393, causing a translational frameshift with a predicted alternate stop codon (p.R799Tfs*31). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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