ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneID Lab - Advanced Molecular Diagnostics RCV000680441 SCV000807813 likely pathogenic Low renin, low aldosterone hypertension 2018-03-10 criteria provided, single submitter clinical testing This variant results in an amino acid alteration, replacing an arginine(R) with a glutamine (Q) at position 563, written as p.Arg563Gln or p.Q889H. . in silico prediction algorithms does not provide uniform data regarding the effect of this change on protein structure and function, and it has not been reported in the Clin Var Database (NCBI National Library of Medicine, NIH) but it has been described in 16 alleles out of 121124, in the ExAC database, the majority (9) belonging to heterozygous carries of Latino origin. The variant has been associated with low-renin, low-aldosterone hypertension in South African black and mixed-ancestry individuals, the authors conclude that only a portion of subjects with the R563Q allele fully express the Liddle’s syndrome phenotype (J Hypertens. 2003 May;21(5):921-6). Moreover, there is a positive correlation with pre-eclampsia in this population (BJOG. 2006 May;113(5):595-8).

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