ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1423A>G (p.Lys475Glu)

gnomAD frequency: 0.00002  dbSNP: rs375746864
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712542 SCV000843057 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001049765 SCV001213835 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388356 SCV002698405 uncertain significance Inborn genetic diseases 2020-03-04 criteria provided, single submitter clinical testing The p.K475E variant (also known as c.1423A>G), located in coding exon 13 of the PIGN gene, results from an A to G substitution at nucleotide position 1423. The lysine at codon 475 is replaced by glutamic acid, 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.
GeneDx RCV000712542 SCV004170604 uncertain significance not provided 2023-07-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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