ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.677G>A (p.Arg226Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004657159 SCV005149947 uncertain significance not specified 2024-04-24 criteria provided, single submitter clinical testing The c.677G>A (p.R226Q) alteration is located in exon 2 (coding exon 1) of the PIGC gene. This alteration results from a G to A substitution at nucleotide position 677, causing the arginine (R) at amino acid position 226 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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