ClinVar Miner

Submissions for variant NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp)

gnomAD frequency: 0.00001  dbSNP: rs779864905
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808837 SCV002058988 likely pathogenic Bartter disease type 2 2022-01-03 criteria provided, single submitter clinical testing A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000870374, PM5_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.767, PP3_P). A missense variant is a common mechanism associated with Bartter syndrome (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000044, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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