ClinVar Miner

Submissions for variant NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp)

gnomAD frequency: 0.00001  dbSNP: rs750991783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003558599 SCV004293227 uncertain significance not provided 2023-11-12 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 237 of the NIPAL4 protein (p.His237Asp). This variant is present in population databases (rs750991783, gnomAD 0.007%). This missense change has been observed in individual(s) with congenital ichthyosis (PMID: 15317751). ClinVar contains an entry for this variant (Variation ID: 638546). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute for Human Genetics, University Medical Center Freiburg RCV000791230 SCV000930518 pathogenic Autosomal recessive congenital ichthyosis 6 2019-05-16 no assertion criteria provided clinical testing

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