ClinVar Miner

Submissions for variant NM_004278.4(PIGL):c.493A>C (p.Arg165=)

gnomAD frequency: 0.00014  dbSNP: rs184077858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147264 SCV000194635 uncertain significance CHIME syndrome 2014-04-02 criteria provided, single submitter clinical testing
Invitae RCV002515973 SCV003296323 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 159710). This variant has not been reported in the literature in individuals affected with PIGL-related conditions. This variant is present in population databases (rs184077858, gnomAD 0.04%). This sequence change affects codon 165 of the PIGL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PIGL protein. It affects a nucleotide within the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV003965109 SCV004778333 likely benign PIGL-related condition 2021-09-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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