ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3634_3637del (p.Asn1212fs)

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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 RCV005154470 SCV005782049 pathogenic CHARGE syndrome 2024-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1212Phefs*30) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CHD7-related conditions (PMID: 34671977). For these reasons, this variant has been classified as Pathogenic.

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