ClinVar Miner

Submissions for variant NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg)

gnomAD frequency: 0.00001  dbSNP: rs757041309
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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 RCV005056555 SCV005726280 uncertain significance not specified 2024-11-15 criteria provided, single submitter clinical testing Variant summary: NIPAL4 c.658G>A (p.Gly220Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 249088 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.658G>A has been reported in the literature as c.844G>A, p.Gly282Arg in at-least one individual affected with Lamellar Ichthyosis (example: Ballin_2019 ). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 31347739). ClinVar contains an entry for this variant (Variation ID: 638549). Based on the evidence outlined above, the variant was classified as uncertain significance.
Institute for Human Genetics, University Medical Center Freiburg RCV000791233 SCV000930522 pathogenic Autosomal recessive congenital ichthyosis 6 2019-05-16 no assertion criteria provided clinical testing

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