ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.83A>G (p.Tyr28Cys)

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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 RCV004313095 SCV003974695 uncertain significance not specified 2023-04-13 criteria provided, single submitter clinical testing The c.83A>G (p.Y28C) alteration is located in exon 2 (coding exon 1) of the PIGC gene. This alteration results from a A to G substitution at nucleotide position 83, causing the tyrosine (Y) at amino acid position 28 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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