ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.325C>T (p.Arg109Trp)

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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 RCV004133414 SCV003612244 uncertain significance not specified 2022-11-07 criteria provided, single submitter clinical testing The c.325C>T (p.R109W) alteration is located in exon 2 (coding exon 1) of the PIGC gene. This alteration results from a C to T substitution at nucleotide position 325, causing the arginine (R) at amino acid position 109 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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