ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.562C>T (p.His188Tyr) (rs773629540)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000481779 SCV000702755 uncertain significance not provided 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000481779 SCV000571960 likely pathogenic not provided 2016-11-11 criteria provided, single submitter clinical testing The H188Y variant in the PIGN gene has not been reported previously as a pathogenic variant, nor asa benign variant, to our knowledge. The H188Y variant was not observed in the Exome AggregationConsortium (ExAC) data set, indicating it is not a common benign variant. The H188Y variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is not conserved and in silico analysis is inconsistent in its predictions as to whether ornot the variant is damaging to the protein structure/function. The H188Y variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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