ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1276A>T (p.Asn426Tyr)

dbSNP: rs200817545
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Unit, University Of Colombo RCV000454555 SCV000537689 pathogenic Familial hypokalemia-hypomagnesemia no assertion criteria provided clinical testing Two siblings from a Sri Lankan non-consanguineous family presenting with hypokalaemia associated with renal potassium wasting, hypomagnesemia, hypocalciuria and hypereninemic hyperaldosteronism with normal blood pressure underwent genetic testing. It showed that both were homozygotes for a novel missense mutation in exon 10 of the SLC12A3 gene [NM_000339.2, c.1276A>T; p.N426Y], which has not previously been reported in the literature in association with GS. Both siblings had young onset Diabetes with strong family history.

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