ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1696T>C (p.Tyr566His)

gnomAD frequency: 0.00001  dbSNP: rs781624190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327141 SCV001518203 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2021-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402918 SCV002712421 uncertain significance Inborn genetic diseases 2017-12-18 criteria provided, single submitter clinical testing The p.Y566H variant (also known as c.1696T>C), located in coding exon 16 of the PIGN gene, results from a T to C substitution at nucleotide position 1696. The tyrosine at codon 566 is replaced by histidine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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