ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.68C>T (p.Pro23Leu)

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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 RCV004850431 SCV005469309 uncertain significance not specified 2024-06-26 criteria provided, single submitter clinical testing The c.68C>T (p.P23L) 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 68, causing the proline (P) at amino acid position 23 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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