ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1488dup (p.Pro497fs)

dbSNP: rs786204200
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168287 SCV000218964 pathogenic CHARGE association 2014-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 574 (p.Pro497Thrfs*78). It is expected to result in an absent or disrupted protein product. Truncating sequence changes in CHD7 are known to be pathogenic. This particular truncation has been reported in the literature in a patient referred for CHARGE syndrome testing (PMID: 21158681). For these reasons, this sequence change has been classified as Pathogenic.

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