Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827826 | SCV000969488 | likely benign | not provided | 2018-06-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV000827826 | SCV001472473 | likely benign | not provided | 2020-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001828045 | SCV003293199 | uncertain significance | Fabry disease | 2022-11-22 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 222101). This variant has been observed in individual(s) with ischemic stroke and cerebral venous thrombosis (PMID: 20110537). This variant is present in population databases (rs781906252, gnomAD 0.02%). This variant occurs in a non-coding region of the GLA gene. It does not change the encoded amino acid sequence of the GLA protein. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GLA function (PMID: 25772321). 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, |
RCV001828045 | SCV002081355 | likely benign | Fabry disease | 2020-02-12 | no assertion criteria provided | clinical testing |