ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2163T>A (p.His721Gln)

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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 RCV001075240 SCV001240854 uncertain significance Retinal dystrophy 2017-03-30 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268234 SCV001447014 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001268234 SCV001565045 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 721 of the MERTK protein (p.His721Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs749472520, ExAC 0.001%). This variant has been observed in individual(s) with rod cone dystrophy (PMID: 29659094). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5

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