ClinVar Miner

Submissions for variant NM_001278.5(CHUK):c.1535A>G (p.Lys512Arg)

gnomAD frequency: 0.00016  dbSNP: rs368462852
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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 RCV001988127 SCV002218532 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 512 of the CHUK protein (p.Lys512Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs368462852, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CHUK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1447143). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 RCV002563487 SCV003696488 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.1535A>G (p.K512R) alteration is located in exon 14 (coding exon 14) of the CHUK gene. This alteration results from a A to G substitution at nucleotide position 1535, causing the lysine (K) at amino acid position 512 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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