ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)

gnomAD frequency: 0.00001  dbSNP: rs1003615909
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986951 SCV001136111 likely pathogenic Retinitis pigmentosa 26 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001203143 SCV001374293 pathogenic not provided 2024-11-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 119 of the CERKL protein (p.Gly119Asp). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of cone-rod dystrophy and/or clinical features of retinitis pigmentosa (PMID: 26766544, 30337596; internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 801838). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt CERKL protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000986951 SCV002605266 likely pathogenic Retinitis pigmentosa 26 2022-11-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000986951 SCV005057396 pathogenic Retinitis pigmentosa 26 2024-02-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986951 SCV002080294 uncertain significance Retinitis pigmentosa 26 2020-11-17 no assertion criteria provided clinical testing

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