ClinVar Miner

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

gnomAD frequency: 0.00011  dbSNP: rs747067203
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486079 SCV000566548 pathogenic not provided 2022-11-18 criteria provided, single submitter clinical testing Frameshift 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 at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34440395, 27245440, 31589614, 16826531)
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000498334 SCV000590869 pathogenic Autosomal recessive multiple pterygium syndrome 2016-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000498334 SCV000807223 pathogenic Autosomal recessive multiple pterygium syndrome 2023-04-15 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000498334 SCV000996182 pathogenic Autosomal recessive multiple pterygium syndrome 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.
Ambry Genetics RCV001266730 SCV001444907 pathogenic Inborn genetic diseases 2019-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496856 SCV002813805 pathogenic Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 2021-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333071 SCV004041517 pathogenic Lethal multiple pterygium syndrome 2023-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000486079 SCV004449879 pathogenic not provided 2023-09-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 419026). This variant is also known as p.Pro134fs43Ter. This premature translational stop signal has been observed in individual(s) with multiple pterygium syndrome (PMID: 16826531, 27245440). This variant is present in population databases (rs747067203, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Pro134Argfs*43) in the CHRNG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNG are known to be pathogenic (PMID: 16826520).
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000486079 SCV005197030 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing

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