ClinVar Miner

Submissions for variant NM_001830.3(CLCN4):c.43G>A (p.Asp15Asn) (rs879255591)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GOLD service, Hunter New England Health RCV000239753 SCV000266305 uncertain significance CLCN4-related disorder 2016-03-22 criteria provided, single submitter clinical testing De novo variant. Additional non-neurological features not seen in other patients with CLCN4 related disorder.
GeneDx RCV000441553 SCV000524775 likely pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The D15N variant in the CLCN4 gene has been previously reported in one individual with congenital diaphragmatic hernia (Yu et al., 2015). This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D15N variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. The D15N variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The D15N variant is a strong candidate for a pathogenic variant.

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