ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.222del (p.Gln74fs)

gnomAD frequency: 0.00003  dbSNP: rs1476585944
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062730 SCV001227547 pathogenic not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln74Hisfs*28) in the CERKL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CERKL are known to be pathogenic (PMID: 14681825, 23591405, 24043777). This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with CERKL-related conditions. ClinVar contains an entry for this variant (Variation ID: 857117). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376311 SCV001573411 likely pathogenic Retinitis pigmentosa 26 2021-04-08 criteria provided, single submitter research The CERKL c.222del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Baylor Genetics RCV001376311 SCV004216808 pathogenic Retinitis pigmentosa 26 2024-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001376311 SCV005655348 likely pathogenic Retinitis pigmentosa 26 2024-01-10 criteria provided, single submitter clinical testing

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