ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)

gnomAD frequency: 0.00001  dbSNP: rs527236084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662015 SCV000784347 uncertain significance Retinitis pigmentosa 38 2018-03-05 criteria provided, single submitter clinical testing
3billion RCV000662015 SCV002058279 uncertain significance Retinitis pigmentosa 38 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with MERTK related disorder (PMID:24265693, PS1_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.67, PP3_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000012, PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132663 SCV000172614 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000132663 SCV000926608 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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