Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199418 | SCV000251131 | uncertain significance | not provided | 2016-11-30 | criteria provided, single submitter | clinical testing | The Y586F variant has previously been reported as heterozygous in a single female patient with moderate congenital erythropoietic porphyria (To-Figueras et al., 2011). Functional analysis of Y586F found that it is assocaited with only a mild gain of function in vitro (To-Figueras et al., 2011). However, the NHLBI Exome Sequencing Project reports Y586F was observed in 31/3835 alleles from individuals of African-American background, indicating it may be a rare, benign variant in this population. The Y586F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Mendelics | RCV000990842 | SCV001141889 | uncertain significance | X-linked sideroblastic anemia 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000199418 | SCV003264754 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000199418 | SCV004225664 | uncertain significance | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000033870 | SCV000057778 | not provided | X-linked erythropoietic protoporphyria | no assertion provided | literature only |