ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.806G>A (p.Gly269Asp)

dbSNP: rs1131691687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493438 SCV000582636 likely pathogenic not provided 2017-05-17 criteria provided, single submitter clinical testing The G269D variant in the CLCN4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G269D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G269D 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. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G269D as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000509195 SCV000607256 not provided CLCN4-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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