ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204045 SCV001375231 uncertain significance not provided 2019-08-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MERTK gene (p.Ser860Lysfs*37). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acids of the MERTK protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MERTK-related conditions. 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.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376427 SCV001573559 likely pathogenic Retinitis pigmentosa 38 2021-04-08 criteria provided, single submitter research The MERTK c.2577_2578dup variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
GeneDx RCV001204045 SCV001753863 likely pathogenic not provided 2020-11-23 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 140 amino acids are lost and replaced with 36 incorrect amino acids; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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