ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1375G>A (p.Glu459Lys)

gnomAD frequency: 0.00003  dbSNP: rs772725042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261502 SCV002541244 uncertain significance not provided 2021-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003348823 SCV004068163 uncertain significance Inborn genetic diseases 2023-07-19 criteria provided, single submitter clinical testing The c.1375G>A (p.E459K) alteration is located in exon 10 (coding exon 10) of the SLC12A6 gene. This alteration results from a G to A substitution at nucleotide position 1375, causing the glutamic acid (E) at amino acid position 459 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003408188 SCV004109832 uncertain significance SLC12A6-related disorder 2023-07-27 criteria provided, single submitter clinical testing The SLC12A6 c.1375G>A variant is predicted to result in the amino acid substitution p.Glu459Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-34543217-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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