ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)

gnomAD frequency: 0.00001  dbSNP: rs1233324021
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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 RCV001379507 SCV001577319 likely pathogenic not provided 2022-02-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects SLC4A11 function (PMID: 29327391). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1068065). This missense change has been observed in individuals with congenital hereditary endothelial dystrophy (PMID: 23922488, 31714402). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 417 of the SLC4A11 protein (p.Gly417Arg).
Fulgent Genetics, Fulgent Genetics RCV002488197 SCV002788279 likely pathogenic Corneal dystrophy-perceptive deafness syndrome; Congenital hereditary endothelial dystrophy of cornea; Corneal dystrophy, Fuchs endothelial, 4 2021-12-02 criteria provided, single submitter clinical testing

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