ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2544_2546delinsTG (p.Lys848fs)

dbSNP: rs2487774322
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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 RCV002455802 SCV002740106 pathogenic Inborn genetic diseases 2015-11-10 criteria provided, single submitter clinical testing The c.2544_2546delAGAinsTG pathogenic mutation, located in coding exon 7 of the CHD7 gene, results from the deletion of 3 nucleotides and the insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon. 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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