ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.865A>C (p.Lys289Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004193611 SCV003699158 uncertain significance not specified 2022-08-30 criteria provided, single submitter clinical testing The c.865A>C (p.K289Q) alteration is located in exon 2 (coding exon 1) of the PIGC gene. This alteration results from a A to C substitution at nucleotide position 865, causing the lysine (K) at amino acid position 289 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003111737 SCV003785964 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with PIGC-related conditions. This variant is present in population databases (rs777363797, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 289 of the PIGC protein (p.Lys289Gln).

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