ClinVar Miner

Submissions for variant NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)

gnomAD frequency: 0.00004  dbSNP: rs377215024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986254 SCV001135193 pathogenic Bartter disease type 3 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001576355 SCV001803520 pathogenic not provided 2019-08-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease
Fulgent Genetics, Fulgent Genetics RCV002505497 SCV002803742 likely pathogenic Bartter disease type 3; Bartter disease type 4B 2021-09-28 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV003388600 SCV004100551 likely pathogenic Autosomal dominant osteopetrosis 1 criteria provided, single submitter clinical testing The stop gained p.R304* in CLCNKB (NM_000085.5) has been reported to ClinVar as Pathogenic with no functional evidence. It has not been reported previously in literature. The p.R304* variant is observed in 9/1,13,706 (0.0079%) alleles from individuals of European (Non-Finnish) background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Likely Pathogenic.

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