ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.625C>T (p.His209Tyr)

dbSNP: rs2513983743
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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 RCV003195968 SCV003901508 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.625C>T (p.H209Y) alteration is located in exon 8 (coding exon 5) of the PIGN gene. This alteration results from a C to T substitution at nucleotide position 625, causing the histidine (H) at amino acid position 209 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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