ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)

dbSNP: rs775776288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073414 SCV001238955 likely pathogenic Retinal dystrophy 2019-01-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376396 SCV001573519 pathogenic Retinitis pigmentosa 38 2021-04-08 criteria provided, single submitter research The MERTK c.2049_2052del 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, PM3. Based on this evidence we have classified this variant as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005056858 SCV005693121 pathogenic not provided 2024-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu683Phefs*18) 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 (rs775776288, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with inherited retinal disease (PMID: 31429209). ClinVar contains an entry for this variant (Variation ID: 865869). For these reasons, this variant has been classified as Pathogenic.

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