ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2613+1G>A

dbSNP: rs587783432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145658 SCV000192759 pathogenic CHARGE association 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426702 SCV002744550 likely pathogenic Inborn genetic diseases 2018-01-30 criteria provided, single submitter clinical testing The c.2613+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 7 of the CHD7 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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