ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.362A>G (p.Tyr121Cys)

gnomAD frequency: 0.00001  dbSNP: rs1283775272
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001886775 SCV002155297 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-10-13 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. 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 expected to disrupt PIGO protein function. ClinVar contains an entry for this variant (Variation ID: 1388651). 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 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 121 of the PIGO protein (p.Tyr121Cys).

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