ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.398_401del (p.Arg133fs)

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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 RCV003039179 SCV003333331 pathogenic CHARGE syndrome 2022-03-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg133Metfs*77) 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 variant has not been reported in the literature in individuals affected with CHD7-related conditions. For these reasons, this variant has been classified as Pathogenic.

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