ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.770T>C (p.Leu257Pro)

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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 RCV004844411 SCV005469312 uncertain significance not specified 2024-08-20 criteria provided, single submitter clinical testing The c.770T>C (p.L257P) alteration is located in exon 2 (coding exon 1) of the PIGC gene. This alteration results from a T to C substitution at nucleotide position 770, causing the leucine (L) at amino acid position 257 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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