ClinVar Miner

Submissions for variant NM_004174.4(SLC9A3):c.1039G>A (p.Glu347Lys) (rs766583286)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Department,Assistance Publique Hopitaux de Marseille RCV000767856 SCV000897711 likely pathogenic Diarrhea 8, secretory sodium, congenital 2019-04-10 criteria provided, single submitter clinical testing Congenital Sodium Diarrhea (CSD) is characterized by fecal Sodium loss and is either syndromic or isolated. Recently, Janecke et al. (PubMed:26358773) described nine patients from eight unrelated families with non-syndromic CSD due to recessive mutations of SLC9A3 gene. This genetic defect was responsible for abnormal function of Na+/H+ antiporter 3, a major intestinal brush border Na+/H+ exchanger. The present mutation was found at homozygous state in a young boy presenting a non-syndromic CSD with similar symptoms. He was born from first degree cousin's parents.
OMIM RCV000767856 SCV001445825 pathogenic Diarrhea 8, secretory sodium, congenital 2020-11-18 no assertion criteria provided literature only

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