ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter)

dbSNP: rs1363770105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825571 SCV000966904 pathogenic Congenital hereditary endothelial dystrophy of cornea 2018-12-12 criteria provided, single submitter clinical testing The p.Cys413X variant in SLC4A11 has been reported in 1 homozygous individual wi th corneal endothelial dystrophy 2 (Park 2013). It was absent from large populat ion studies. This nonsense variant leads to a premature termination codon at pos ition 413, which is predicted to lead to a truncated or absent protein. Loss of function of the SLC4A11 gene is an established disease mechanism in corneal endo thelial dystrophy 2. In summary, this variant meets criteria to be classified as pathogenic for corneal endothelial dystrophy 2 in an autosomal recessive manner . ACMG/AMP Criteria applied: PVS1, PM2, PM3_Supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858402 SCV002236356 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys386*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital hereditary endothelial dystrophy (PMID: 23615275). This variant is also known as c.1239C>A (p.Cys413*. ClinVar contains an entry for this variant (Variation ID: 666996). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001835982 SCV002090948 pathogenic Corneal dystrophy-perceptive deafness syndrome 2020-12-22 no assertion criteria provided clinical testing

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