ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) (rs587777161)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520512 SCV000617426 pathogenic not provided 2018-06-06 criteria provided, single submitter clinical testing The G544R variant in the CLCN4 gene has been reported previously as a hemizygous de novo finding in a male with epilepsy, severe developmental delay, and cognitive impairment (Veeramah et al., 2013). Functional studies demonstrate that the G544R variant results in near abolition of the chloride channel current (Veeramah et al., 2013). This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G544R 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, and occurs at a position that is conserved across species.We interpret G544R as a pathogenic variant.
OMIM RCV000087143 SCV000120005 pathogenic Mental retardation 49, X-linked 2013-07-01 no assertion criteria provided literature only

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