Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000710511 | SCV000840749 | uncertain significance | not provided | 2017-11-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000710511 | SCV002050016 | uncertain significance | not provided | 2021-07-08 | criteria provided, single submitter | clinical testing | The ALPL c.1505C>T; p.Ser502Leu variant (rs550358395), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 585385). This variant is found in the general population with an overall allele frequency of 0.012% (33/269432 alleles) in the Genome Aggregation Database. The serine at codon 502 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.186). Due to limited information, the clinical significance of the p.Ser502Leu variant is uncertain at this time. |
Genome Diagnostics Laboratory, |
RCV002279495 | SCV002565143 | likely benign | Osteogenesis imperfecta | 2021-02-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507242 | SCV002814248 | uncertain significance | Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia | 2021-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000710511 | SCV003294950 | uncertain significance | not provided | 2022-09-08 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 502 of the ALPL protein (p.Ser502Leu). This variant is present in population databases (rs550358395, gnomAD 0.08%). This missense change has been observed in individual(s) with hypophosphatasia (Invitae). ClinVar contains an entry for this variant (Variation ID: 585385). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Natera, |
RCV001825412 | SCV002094095 | uncertain significance | Hypophosphatasia | 2019-10-28 | no assertion criteria provided | clinical testing |