Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726136 | SCV000342286 | uncertain significance | not provided | 2016-06-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726136 | SCV000583010 | uncertain significance | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Center for Genomics, |
RCV000768044 | SCV000898879 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 1 | 2021-03-30 | criteria provided, single submitter | clinical testing | PIGV NM_017837.3 exon 3 p.Arg45His (c.134G>A): This variant has not been reported in the literature but is present in 0.02% (7/34420) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-27120659-G-A). This variant is present in ClinVar (Variation ID:288236). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV000726136 | SCV002279921 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 45 of the PIGV protein (p.Arg45His). This variant is present in population databases (rs148135928, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PIGV-related conditions. ClinVar contains an entry for this variant (Variation ID: 288236). 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 PIGV protein function. 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. |