Submissions for variant NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)

dbSNP: rs1085307938

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000489700	SCV000577692	likely pathogenic	not provided	2015-07-10	criteria provided, single submitter	clinical testing	The G24D variant in the CLCN2 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The G24D 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 G24D 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. The G24D variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded.
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	RCV000584655	SCV000679685	pathogenic	Familial hyperaldosteronism type II	2017-12-22	criteria provided, single submitter	clinical testing
OMIM	RCV000584655	SCV000803375	pathogenic	Familial hyperaldosteronism type II	2018-08-10	no assertion criteria provided	literature only