ClinVar Miner

Submissions for variant NM_153767.3(KCNJ1):c.626G>A (p.Gly209Glu) (rs761781140)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778313 SCV000914496 uncertain significance Bartter syndrome, type 2, antenatal 2017-09-07 criteria provided, single submitter clinical testing The KCNJ1 c.683G>A (p.Gly228Glu) missense variant has been reported in three studies in which it is identified in three unrelated patients in a compound heterozygous state (Brochard et al. 2008, Ji et al. 2008, Mammen et al. 2012). One patient was also heterozygous for a variant in SLC12A3. The mother of this patient was identified to be heterozygous for the p.Gly228Glu variant and the father was heterozygous for the other missense variant in KCNJ1 and the variant in SLC12A3 (Mammen et al. 2012). This variant was absent from 100 control chromosomes, but is reported at a frequency of 0.000018 in the European (non-Finnish) population from the Genome Aggregation Database, however this is based on two alleles so the variant is presumed to be rare. The evidence for this variant is limited. Therefore, the p.Gly228Glu variant is considered to be of unknown significance but suspicious for pathogenicity for antenatal Bartter syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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