ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2360G>A (p.Gly787Asp)

gnomAD frequency: 0.00001  dbSNP: rs747894786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512692 SCV000608958 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing MERTK: PM2, PM3, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV000512692 SCV002172180 uncertain significance not provided 2021-06-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of MERTK-related conditions (PMID: 29555955). ClinVar contains an entry for this variant (Variation ID: 444514). This variant is present in population databases (rs747894786, ExAC 0.001%). This sequence change replaces glycine with aspartic acid at codon 787 of the MERTK protein (p.Gly787Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817744 SCV005069841 likely pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing

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