ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1505del (p.Pro502fs)

dbSNP: rs863224517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000199561 SCV000253924 pathogenic CHARGE syndrome 2015-03-04 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 2 of the CHD7 mRNA (c.1504delC), causing a frameshift at codon 502. This creates a premature translational stop signal (p.Pro502Leufs*62) and is expected to result in an absent or disrupted protein product.

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