ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2214del (p.Cys738fs)

dbSNP: rs886039422
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255265 SCV000321892 pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 16714263, 31589614, 31725702, 33188265, 26355662, 32783370)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004760469 SCV005374044 pathogenic Retinitis pigmentosa 38 2024-09-22 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004760469 SCV005420587 pathogenic Retinitis pigmentosa 38 2024-10-04 criteria provided, single submitter research PVS1,PM3,PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV000255265 SCV005834827 pathogenic not provided 2024-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys738Trpfs*32) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinal dystrophy (PMID: 16714263). ClinVar contains an entry for this variant (Variation ID: 265244). For these reasons, this variant has been classified as Pathogenic.
Faculty of Health Sciences, Beirut Arab University RCV001257795 SCV001434672 pathogenic Autosomal recessive retinitis pigmentosa 2019-11-08 no assertion criteria provided literature only

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