Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000338911 | SCV000340495 | uncertain significance | not provided | 2016-03-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000338911 | SCV001792666 | uncertain significance | not provided | 2021-03-29 | criteria provided, single submitter | clinical testing | Observed in a fetus evaluated for prenatal hypophosphatasia; however, the patient's postnatal findings were consistent with OI and a homozygous variant in the CRTAP gene was identified (Sperelakis-Beedham et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32973344, 33549410) |
Fulgent Genetics, |
RCV002487243 | SCV002784699 | uncertain significance | Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia | 2021-10-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000338911 | SCV003257258 | uncertain significance | not provided | 2023-12-03 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 245 of the ALPL protein (p.Thr245Met). This variant is present in population databases (rs142608957, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ALPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 286903). 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 ALPL protein function with a positive predictive value of 95%. 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. |
Natera, |
RCV001828236 | SCV002094069 | uncertain significance | Hypophosphatasia | 2019-10-28 | no assertion criteria provided | clinical testing |