Submissions for variant NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer)

gnomAD frequency: 0.00001  dbSNP: rs779593707

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000626588	SCV000747289	likely pathogenic	Proteinuria; Hematuria	2017-01-01	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197383	SCV001368103	likely pathogenic	Bartter disease type 3	2019-06-12	criteria provided, single submitter	clinical testing	This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002529792	SCV003206599	pathogenic	not provided	2022-01-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg314Lysfs*2) in the CLCNKB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLCNKB are known to be pathogenic (PMID: 24830959, 26920127, 28381550, 29254190). This variant is present in population databases (rs779593707, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CLCNKB-related conditions. ClinVar contains an entry for this variant (Variation ID: 523321). For these reasons, this variant has been classified as Pathogenic.
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	RCV001197383	SCV003936818	pathogenic	Bartter disease type 3	2023-07-05	criteria provided, single submitter	clinical testing	Rare null variant, reported as pathogenic on Clinvar and LOVD databases.