ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1256C>T (p.Ala419Val)

gnomAD frequency: 0.00001  dbSNP: rs777439274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824258 SCV000965151 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 419 of the PIGO protein (p.Ala419Val). This variant is present in population databases (rs777439274, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. ClinVar contains an entry for this variant (Variation ID: 665883). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIGO protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
New York Genome Center RCV000824258 SCV002025702 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2020-04-18 criteria provided, single submitter clinical testing

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