ClinVar Miner

Submissions for variant NM_000929.3(PLA2G5):c.157C>T (p.Arg53Ter)

gnomAD frequency: 0.00004  dbSNP: rs200954922
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Total submissions: 2
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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

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