ClinVar Miner

Submissions for variant NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)

gnomAD frequency: 0.00001  dbSNP: rs370356566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414650 SCV000490560 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22098531, 26456858, 17557927, 22258272, 33786896, 29444371, 31347739, 29576363)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797712 SCV002041616 pathogenic Lamellar ichthyosis 2023-04-11 criteria provided, single submitter clinical testing Variant summary: NIPAL4 c.502G>A (p.Gly168Arg) 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 2.1e-05 in 237136 control chromosomes. c.502G>A has been reported in the literature in multiple compound heterozygous and homozygous individuals affected with autosomal recessive congenital ichthyosis (e.g. Dahlqvist_2007, Mohamad_2021). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Institute for Human Genetics, University Medical Center Freiburg RCV000791228 SCV000930516 pathogenic Autosomal recessive congenital ichthyosis 6 2019-05-16 no assertion criteria provided clinical testing
GeneReviews RCV001729571 SCV001980664 not provided Autosomal recessive congenital ichthyosis no assertion provided literature only

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