ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2377del (p.Glu792_Ile793insTer)

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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 RCV002664252 SCV003524707 pathogenic not provided 2022-04-09 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ile793*) 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 premature translational stop signal has been observed in individual(s) with cone rod dystrophy (PMID: 25412400). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005021663 SCV005650736 pathogenic Retinitis pigmentosa 38 2024-05-08 criteria provided, single submitter clinical testing

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