ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003554956 SCV004293359 pathogenic not provided 2023-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln241*) 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 retinitis pigmentosa (PMID: 26147992, 32783370). For these reasons, this variant has been classified as Pathogenic.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798982 SCV005420586 likely pathogenic Retinitis pigmentosa 38 2024-10-04 criteria provided, single submitter research PVS1,PM2

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