ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.317C>A (p.Pro106His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039244 SCV005667625 uncertain significance Autosomal recessive proximal renal tubular acidosis 2023-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112852 SCV005770922 uncertain significance not provided 2024-07-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 62 of the SLC4A4 protein (p.Pro62His). This variant is present in population databases (rs146115336, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC4A4-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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