ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.511A>G (p.Met171Val)

gnomAD frequency: 0.00014  dbSNP: rs139851720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000260340 SCV000451009 uncertain significance Autosomal recessive proximal renal tubular acidosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001861238 SCV002284351 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 127 of the SLC4A4 protein (p.Met127Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs139851720, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with SLC4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 349534). 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 tolerated. 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.
Ambry Genetics RCV002520265 SCV003733372 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.379A>G (p.M127V) alteration is located in exon 2 (coding exon 2) of the SLC4A4 gene. This alteration results from a A to G substitution at nucleotide position 379, causing the methionine (M) at amino acid position 127 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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