ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr)

gnomAD frequency: 0.00003  dbSNP: rs748362724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625921 SCV000746507 likely pathogenic Corneal dystrophy-perceptive deafness syndrome 2017-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005056351 SCV005700714 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 704 of the SLC4A11 protein (p.Ala704Thr). This variant is present in population databases (rs748362724, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC4A11-related conditions. ClinVar contains an entry for this variant (Variation ID: 522760). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC4A11 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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