ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1340G>A (p.Arg447Gln)

gnomAD frequency: 0.00002  dbSNP: rs753693755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001358898 SCV001554755 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 447 of the MERTK protein (p.Arg447Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs753693755, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with MERTK-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Clinical Genetics, Academic Medical Center RCV001699781 SCV001917354 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001358898 SCV001972774 likely benign not provided no assertion criteria provided clinical testing

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