ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) (rs121909390)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815081 SCV000955524 pathogenic not provided 2020-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg605*) in the SLC4A11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals and families with SLC4A11-related conditions (PMID: 17679935, 16825429, 16767101). ClinVar contains an entry for this variant (Variation ID: 1307). Loss-of-function variants in SLC4A11 are known to be pathogenic (PMID: 17220209, 17679935). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001370 SCV000021520 pathogenic Congenital hereditary endothelial dystrophy of the cornea 2008-03-01 no assertion criteria provided literature only
Natera, Inc. RCV001273531 SCV001456668 pathogenic Corneal dystrophy-perceptive deafness syndrome 2020-09-16 no assertion criteria provided clinical testing

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