ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs)

dbSNP: rs1600618680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851539 SCV002232592 pathogenic not provided 2021-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1322). This variant is also known as c.99-100delTC and S33SfsX18. This premature translational stop signal has been observed in individual(s) with clinical features of Fuchs endothelial corneal dystrophy (PMID: 18024964). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro34Hisfs*17) in the SLC4A11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC4A11 are known to be pathogenic (PMID: 17220209, 17679935).
OMIM RCV000001385 SCV000021535 pathogenic Corneal dystrophy, Fuchs endothelial, 4 2006-07-01 no assertion criteria provided literature only

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