ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)

gnomAD frequency: 0.00001  dbSNP: rs119489105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054980 SCV001219344 pathogenic not provided 2024-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg651*) 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 (rs119489105, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of inherited retinal dystrophies (PMID: 11062461, 20300561, 25097241). ClinVar contains an entry for this variant (Variation ID: 5402). 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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001723542 SCV001950293 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Arg651Ter 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814840 SCV005069116 pathogenic Retinal dystrophy 2015-01-01 criteria provided, single submitter clinical testing
OMIM RCV000005733 SCV000025915 pathogenic Retinitis pigmentosa 38 2010-03-09 no assertion criteria provided literature only
Faculty of Health Sciences, Beirut Arab University RCV001257901 SCV001434669 pathogenic Autosomal recessive retinitis pigmentosa 2018-05-23 no assertion criteria provided literature only

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