ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)

dbSNP: rs1064793346
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482183 SCV000565877 pathogenic not provided 2022-07-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 26538304, 31019026, 32386258, 33888711, 16155193)
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853243 SCV000996059 pathogenic CHARGE association 2017-05-23 criteria provided, single submitter clinical testing The c.7879C>T (p.Arg2627Ter) variant is a stop-gained variant that is predicted to result in premature termination of the CHD7 protein. This variant is well described in the literature with at least 12 patients affected by CHARGE that carry this variant (PMID: 22461308).The two most frequent variants reported in CHD7, which include p.Arg2627Ter, result in Arginine transitioning to a stop codon. This amino acid position is highly conserved. Based on the combined evidence of the literature and potential functional effects of stop-gained variants, the p.Arg2627Ter variant is classified as pathogenic for CHARGE syndrome.
CeGaT Center for Human Genetics Tuebingen RCV000482183 SCV001249589 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV000853243 SCV002239430 pathogenic CHARGE association 2022-06-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 418655). This premature translational stop signal has been observed in individual(s) with clinical features of CHARGE syndrome (PMID: 16155193, 26538304, 31019026). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2627*) 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). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV000482183 SCV003818652 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000853243 SCV004014001 pathogenic CHARGE association 2022-12-16 criteria provided, single submitter clinical testing PVS1, PM2, PP5
Baylor Genetics RCV000853243 SCV004041455 pathogenic CHARGE association 2023-02-06 criteria provided, single submitter clinical testing

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