ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)

gnomAD frequency: 0.00002  dbSNP: rs772421550
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074011 SCV001239577 likely pathogenic Retinal dystrophy 2018-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001230244 SCV001402718 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 636044). This missense change has been observed in individual(s) with autosomal recessive retinitis pigmentosa and other inherited retinal dystrophies (PMID: 24265693, 25097241, 28559085, 29068140, 29659094). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs772421550, gnomAD 0.008%). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 115 of the MERTK protein (p.Cys115Trp). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MERTK protein function. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002501026 SCV002809537 likely pathogenic Retinitis pigmentosa 38 2022-03-11 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787624 SCV000926609 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004756037 SCV005365761 pathogenic MERTK-related disorder 2024-06-24 no assertion criteria provided clinical testing The MERTK c.345C>G variant is predicted to result in the amino acid substitution p.Cys115Trp. This variant has been reported in individuals with autosomal recessive retinitis pigmentosa (Eisenberger et al 2013. PubMed ID: 24265693; Table S1, Stone et al 2017. PubMed ID: 28559085; Avela et al 2017. PubMed ID: 29068140; Tracewska et al. 2021. PubMed ID: 34321860; Karali et al. 2022. PubMed ID: 36460718; Table 2, Areblom et al. 2023. PubMed ID: 37510321). This variant is reported in 0.0077% of alleles in individuals of European (Non-Finnish) descent in gnomAD. In ClinVar, this variant is interpreted as likely pathogenic/pathogenic (https://infinity-patientcentral/test/871856). In summary, this variant is interpreted as pathogenic. ,

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