ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.580C>A (p.Pro194Thr)

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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 RCV004844413 SCV005469314 uncertain significance not specified 2024-08-27 criteria provided, single submitter clinical testing The c.580C>A (p.P194T) alteration is located in exon 2 (coding exon 1) of the PIGC gene. This alteration results from a C to A substitution at nucleotide position 580, causing the proline (P) at amino acid position 194 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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