ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs)

dbSNP: rs1573638426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001159 SCV001158308 pathogenic Retinitis pigmentosa 38 2019-04-09 criteria provided, single submitter clinical testing The MERTK c.2070_2074delAGGAC; p.Gly691fs variant is reported in the literature in the homozygous state in an individual affected with retinitis pigmentosa (Gal 2000). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting five nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Further, MERTK loss-of-function is an established mechanism of disease, and truncating variants downstream of p.Gly691fs have been described in individuals with retinal dystrophies and are considered disease-causing (Audo 2018, Patel 2016). Based on available information, this variant is considered to be pathogenic. References: Audo I et al. MERTK mutation update in inherited retinal diseases. Hum Mutat. 2018 Jul;39(7):887-913. Gal A et al. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet. 2000 Nov;26(3):270-1. Patel N et al. Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Genet Med. 2016 Jun;18(6):554-62.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268553 SCV001447552 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV001001159 SCV000025913 pathogenic Retinitis pigmentosa 38 2000-11-01 no assertion criteria provided literature only

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