ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.1421G>A (p.Arg474His)

gnomAD frequency: 0.00012  dbSNP: rs16829216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001825070 SCV002074213 uncertain significance not specified 2022-01-11 criteria provided, single submitter clinical testing Variant summary: CHRNG c.1421G>A (p.Arg474His) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.8e-05 in 250812 control chromosomes (gnomAD, exomes dataset). This frequency is not higher than expected for a pathogenic variant in CHRNG causing CHRNG Related Lethal Multiple Pterygium Syndrome (0.0011), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1421G>A in individuals affected with CHRNG Related Lethal Multiple Pterygium Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002482381 SCV002778367 uncertain significance Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 2021-07-28 criteria provided, single submitter clinical testing

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