ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.700G>C (p.Val234Leu)

dbSNP: rs748175836
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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 RCV002944459 SCV003666634 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.700G>C (p.V234L) alteration is located in exon 9 (coding exon 6) of the PIGN gene. This alteration results from a G to C substitution at nucleotide position 700, causing the valine (V) at amino acid position 234 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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