ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs)

dbSNP: rs776644374
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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 RCV001230432 SCV001402911 pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu434Alafs*40) 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 (rs776644374, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with rod-cone dystrophy (PMID: 29659094). ClinVar contains an entry for this variant (Variation ID: 957448). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001230432 SCV001447553 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376500 SCV001573671 likely pathogenic Retinitis pigmentosa 38 2021-04-08 criteria provided, single submitter research The MERTK c.1301_1302del 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.
Faculty of Health Sciences, Beirut Arab University RCV001257898 SCV001434666 pathogenic Autosomal recessive retinitis pigmentosa 2018-05-23 no assertion criteria provided literature only

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