ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2458C>T (p.Pro820Ser)

gnomAD frequency: 0.00001  dbSNP: rs1413004957
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001953974 SCV002245404 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-08-05 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1461282). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 820 of the PIGO protein (p.Pro820Ser).

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