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: 5
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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 pathogenic Bartter disease type 3; Bartter disease type 4B 2024-06-03 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM 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.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000986254 SCV005848196 pathogenic Bartter disease type 3 criteria provided, single submitter research A known stopgain variant c.910C>T in exon 10 of CLCNKB (ClinVar ID: VCV000801448.6) was identified in homozygous state in the proband. On segregation analysis, this variant was found to be in a heterozygous state in the mother (Lab ID: 10110) and the father (Lab ID: 10111). This variant is present in 102 individuals in heterozygous state (allele frequency: 0.00006321) and absent in homozygous state in the gnomAD (v4.1.0) population database. There is one individual with this variant in heterozygous state in our in-house database of 3521 exomes.

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