Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001319735 | SCV001510494 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 30163). This premature translational stop signal has been observed in individual(s) with benign fleck retina (PMID: 22137173). This variant is present in population databases (rs200954922, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Arg53*) in the PLA2G5 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PLA2G5 cause disease. |
OMIM | RCV000023079 | SCV000044370 | affects | Familial benign flecked retina | 2011-12-09 | no assertion criteria provided | literature only |