ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) (rs747067203)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486079 SCV000566548 pathogenic not provided 2018-12-12 criteria provided, single submitter clinical testing The c.401_402delCT deletion in the CHRNG gene has been reported previously in association with aCHRNG-related disorder (Morgan et al., 2006). The c.401_402delCT deletion causes a frameshiftstarting with codon Proline 134, changes this amino acid to an Arginine residue, and creates a prematureStop codon at position 43 of the new reading frame, denoted p.Pro134ArgfsX43. This variant is predictedto cause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. The c.401_402delCT deletion was not observed in any significant frequency in the heterozygousstate and was not observed in the homozygous state in approximately 6500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret c.401_402delCT as a pathogenic variant.
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000498334 SCV000590869 pathogenic Multiple pterygium syndrome Escobar type 2016-01-04 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000498334 SCV000807223 pathogenic Multiple pterygium syndrome Escobar type 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with a frameshift mutation in a newborn male with a clinical diagnosis of Escobar syndrome.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000498334 SCV000996182 pathogenic Multiple pterygium syndrome Escobar type 2018-08-09 criteria provided, single submitter clinical testing This frameshifting variant in exon 5 of 12 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has been previously reported as a homozygous change in patients with Escobar Variant Multiple Pterygium Syndrome (EVMPS) (PMID: 16826531, 27245440). This alteration is present in the gnomAD population database at a frequency of 0.0079% (22/277144) and thus is presumed to be rare. Based on the available evidence, the c.401_402delCT (p.Pro134ArgfsTer43) variant is classified as pathogenic.

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