ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) (rs202114767)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000477802 SCV000893418 likely pathogenic Familial hypokalemia-hypomagnesemia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000681947 SCV000932032 pathogenic not provided 2020-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 964 of the SLC12A3 protein (p.Arg964Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs202114767, ExAC 0.03%). This variant has been observed to be homozygous or in combination with another SLC12A3 variant in individuals affected with Gitelman syndrome, and has been reported to segregate with disease in a family (PMID: 17654016, 8528245, 22214629, 21415153, 30596175). This variant is also known as p.Arg955Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 417864). This variant has been reported to affect SLC12A3 protein function (PMID: 12039972). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477802 SCV000536717 pathogenic Familial hypokalemia-hypomagnesemia 2015-09-23 no assertion criteria provided research
Gharavi Laboratory,Columbia University RCV000681947 SCV000809435 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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