ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.689G>A (p.Gly230Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004456243 SCV004951094 uncertain significance Inborn genetic diseases 2022-06-17 criteria provided, single submitter clinical testing The c.689G>A (p.G230D) alteration is located in exon 5 (coding exon 5) of the SLC12A3 gene. This alteration results from a G to A substitution at nucleotide position 689, causing the glycine (G) at amino acid position 230 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006402 SCV005639189 likely pathogenic Familial hypokalemia-hypomagnesemia 2024-04-15 criteria provided, single submitter clinical testing

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