ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3678del (p.Phe1226fs)

dbSNP: rs863224518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196644 SCV000253925 pathogenic CHARGE association 2015-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in CHD7 are known to be pathogenic (PMID: 22461308). This sequence change deletes 1 nucleotide from exon 15 of the CHD7 mRNA (c.3678delC), causing a frameshift at codon 1226. This creates a premature translational stop signal (p.Phe1226Leufs*17) and is expected to result in an absent or disrupted protein product.

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