ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.520A>T (p.Ile174Phe)

gnomAD frequency: 0.00002  dbSNP: rs775179251
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000880 SCV001157962 uncertain significance Retinitis pigmentosa 38 2019-01-03 criteria provided, single submitter clinical testing The MERTK c.520A>T; p.Ile174Phe variant (rs775179251), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is described in the general population with an allele frequency of 0.002% (4/251256 alleles) in the Genome Aggregation Database. The isoleucine at this position is conserved, but at least two mammals have a phenylalanine at this position, and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Additionally, this variant occurs in the extracellular Ig domain and few missense variants verified to be pathogenic occur in this region (Audo 2018). However, due to limited information, the clinical significance of this variant cannot be determined with certainty. References: Audo I et al. MERTK mutation update in inherited retinal diseases. Hum Mutat. 2018 Jul;39(7):887-913.

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