ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.95G>A (p.Arg32His)

gnomAD frequency: 0.00001  dbSNP: rs550039576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530717 SCV000652715 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 32 of the PIGO protein (p.Arg32His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PIGO-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000530717 SCV004562736 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2023-10-17 criteria provided, single submitter clinical testing Due to limited information, including a lack of clinical and/or functional data and an uninformative population frequency, the clinical significance of this variant is uncertain at this time.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000530717 SCV004099456 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2023-10-30 no assertion criteria provided clinical testing

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