ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)

gnomAD frequency: 0.00004  dbSNP: rs541717028
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049512 SCV001213562 pathogenic not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg722*) in the MERTK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MERTK are known to be pathogenic (PMID: 24265693, 29659094). This variant is present in population databases (rs541717028, gnomAD 0.008%). This premature translational stop signal has been observed in individuals with autosomal recessive retinitis pigmentosa (PMID: 15111602, 25097241, 28041643). ClinVar contains an entry for this variant (Variation ID: 437995). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074082 SCV001239651 likely pathogenic Retinal dystrophy 2018-12-15 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000504691 SCV001950295 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Arg722Ter variant in MERTK was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3-P. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
MGZ Medical Genetics Center RCV002289688 SCV002580245 pathogenic Retinitis pigmentosa 38 2021-08-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074082 SCV005069119 pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504691 SCV000598746 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Sharon lab, Hadassah-Hebrew University Medical Center RCV000504691 SCV001161135 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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