ClinVar Miner

Submissions for variant NM_021083.4(XK):c.664C>G (p.Arg222Gly)

dbSNP: rs2146834483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002539802 SCV003444590 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 222 of the XK protein (p.Arg222Gly). This missense change has been observed in individual(s) with McLeod syndrome (PMID: 11961232, 17302777). 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. This variant disrupts the p.Arg222 amino acid residue in XK. Other variant(s) that disrupt this residue have been observed in individuals with XK-related conditions (PMID: 11961232, 17302777, 30800707), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects XK function (PMID: 11961232). 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: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1300237).
GeneReviews RCV001731242 SCV001981682 not provided McLeod neuroacanthocytosis syndrome no assertion provided literature only This reported XK missense variant predicted to disrupt either structure or function

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