ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) (rs752101663)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000762974 SCV000893417 pathogenic Familial hypokalemia-hypomagnesemia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000681801 SCV001202771 pathogenic not provided 2020-09-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 731 of the SLC12A3 protein (p.Gly731Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs752101663, ExAC 0.01%). This variant has been observed in combination with another SLC12A3 variant in individuals with Gitelman syndrome (PMID: 21415153, 8900229, 12112667, 25422309). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 562347). This variant has been reported to affect SLC12A3 protein function (PMID: 27582097). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory,Columbia University RCV000681801 SCV000809268 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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