ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.296_297del (p.Thr99fs)

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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 RCV002651499 SCV003524943 pathogenic not provided 2022-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.291_292delAC, p.Lys97LysfsX10. This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa and cone-rod dystrophy (PMID: 28512305, 31054281, 33090715). This variant is present in population databases (rs756229364, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Thr99Serfs*8) 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).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796769 SCV005416823 pathogenic Retinitis pigmentosa 38 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Supporting

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