ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.365T>G (p.Leu122Arg)

gnomAD frequency: 0.00001  dbSNP: rs558913945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625304 SCV000744784 uncertain significance Retinitis pigmentosa 26 2015-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531917 SCV003524834 uncertain significance not provided 2021-09-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 122 of the CERKL protein (p.Leu122Arg). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 27898983). ClinVar contains an entry for this variant (Variation ID: 522299). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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