ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2707_2710del (p.His903fs)

dbSNP: rs2150748709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385684 SCV001585632 pathogenic CHARGE syndrome 2022-03-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072855). This premature translational stop signal has been observed in individual(s) with clinical features of CHARGE syndrome (PMID: 22461308). This sequence change creates a premature translational stop signal (p.His903Ilefs*3) 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).
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697131 SCV005198866 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing

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