ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)

dbSNP: rs727503860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000405637 SCV000331593 pathogenic not provided 2014-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514946 SCV003240539 pathogenic CHARGE syndrome 2022-09-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln364*) 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 has not been reported in the literature in individuals affected with CHD7-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 166857).
PreventionGenetics, part of Exact Sciences RCV003398801 SCV004103703 pathogenic CHD7-related disorder 2024-02-10 no assertion criteria provided clinical testing The CHD7 c.1090C>T variant is predicted to result in premature protein termination (p.Gln364*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CHD7 are expected to be pathogenic. This variant is interpreted as pathogenic.

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