ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.746A>G (p.Lys249Arg)

gnomAD frequency: 0.00003  dbSNP: rs752072326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049956 SCV002115689 uncertain significance 3-methylglutaconic aciduria type 1 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 249 of the AUH protein (p.Lys249Arg). This variant is present in population databases (rs752072326, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with AUH-related conditions. 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 RCV002543467 SCV003528466 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.746A>G (p.K249R) alteration is located in exon 7 (coding exon 7) of the AUH gene. This alteration results from a A to G substitution at nucleotide position 746, causing the lysine (K) at amino acid position 249 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004793532 SCV005410740 uncertain significance not provided 2024-03-19 criteria provided, single submitter clinical testing BP4

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