ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.406C>T (p.Gln136Ter)

dbSNP: rs2487263004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, BGI Genomics RCV003498013 SCV004231838 pathogenic CHARGE syndrome criteria provided, single submitter clinical testing The variant is detected as a de novo mutation in our trio pedigree, which is a stop-gain variant and causes protein truncation. The variant is graded as pathogenic (PVS1+PS2+PM2) referring to the ACMG criteria. It was also identified in two previous studies (PMID: 22461308 and PMID: 32625235). Besides, it is marked as disease mutation in HGMD (CM126591). However, this variant is not recorded in ClinVar. So we submit and suggest the variant to be recorded.
Labcorp Genetics (formerly Invitae), Labcorp RCV003498013 SCV004295271 pathogenic CHARGE syndrome 2023-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln136*) 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 premature translational stop signal has been observed in individual(s) with clinical features of CHD7-related conditions (PMID: 22461308). For these reasons, this variant has been classified as Pathogenic.

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