ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1109A>G (p.Asn370Ser)

gnomAD frequency: 0.00001  dbSNP: rs1214104267
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378691 SCV001576317 likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2 2020-04-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 370 of the PIGO protein (p.Asn370Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been reported to affect PIGO protein function (PMID: 28337824). This variant has been observed in individual(s) with phosphatidylinositol glycan anchor biosynthesis class O (PIGO) deficiency (PMID: 28337824). This variant is not present in population databases (ExAC no frequency).

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