ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4537del (p.Glu1513fs)

dbSNP: rs137854028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491824 SCV000579591 pathogenic Hereditary cancer-predisposing syndrome 2016-04-05 criteria provided, single submitter clinical testing The c.4537delG pathogenic mutation, located in coding exon 34 of the TSC2 gene, results from a deletion of one nucleotide at nucleotide position 4537, causing a translational frameshift with a predicted alternate stop codon. This pathogenic mutation has been previously reported in an individual with a clinical diagnosis of tuberous sclerosis complex (Au KS et al. Genet. Med. 2007 Feb; 9(2):88-100). In addition to the clinical data presented in the literature, 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).
Tuberous sclerosis database (TSC2) RCV000042765 SCV000066560 not provided Tuberous sclerosis syndrome no assertion provided curation

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