ClinVar Miner

Submissions for variant NM_000338.2(SLC12A1):c.1522G>A (rs765347751)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779167 SCV000915686 likely pathogenic Bartter syndrome, type 1, antenatal 2018-10-29 criteria provided, single submitter clinical testing The SLC12A1 c.1522G>A (p.Ala508Thr) variant has been reported in three studies and in a total of four unrelated patients with Bartter syndrome, including one in a homozygous state, two in a compound heterozygous state, and one in a heterozygous state in whom a second variant was not detected (Vargas-Poussou et al. 1998; Puricelli et al. 2010; Wongsaengsak et al. 2017). The p.Ala508Thr variant was absent from 100 controls (Vargas-Poussou et al. 1998; Puricelli et al. 2010) and is reported at a frequency of 0.00009 in the European (non-Finnish) population of the Exome Aggregation Consortium. Functional testing demonstrated that the p.Ala508Thr variant resulted in a protein with reduced sodium uptake activity (Starremans et al. 2003). Based on the evidence, the p.Ala508Thr variant is classified as likely pathogenic for antenatal Bartter syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Athena Diagnostics Inc RCV000992996 SCV001145660 likely pathogenic not provided 2019-01-21 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because it is below the disease allele frequency. Statistically enriched in patients compared to ethnically matched controls. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Results on protein functions were inconclusive.

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