ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)

dbSNP: rs868107005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001235290 SCV001370111 uncertain significance CHARGE syndrome 2019-03-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001235290 SCV001407969 benign CHARGE syndrome 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV002225808 SCV002504554 likely benign not provided 2019-10-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003908444 SCV004726372 uncertain significance CHD7-related disorder 2023-12-01 no assertion criteria provided clinical testing The CHD7 c.1405A>G variant is predicted to result in the amino acid substitution p.Arg469Gly. This variant was reported in an individual with CHARGE syndrome (Galvez-Ruiz et al 2020. PubMed ID: 34527879). This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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