ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2162A>C (p.His721Pro)

dbSNP: rs778005207
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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 RCV001001044 SCV001158163 likely pathogenic Retinitis pigmentosa 38 2019-02-15 criteria provided, single submitter clinical testing The MERTK c.2162A>C; p.His721Pro variant (rs778005207), to our knowledge, is not reported in the medical literature or gene-specific databases. In testing performed at ARUP Laboratories, this variant was detected in two relatives with juvenile macular degeneration in trans to a full-gene MERTK deletion. The p.His721Pro variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The histidine at codon 721 is highly conserved, it occurs in a functionally important tyrosine kinase domain, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, another variant at this codon (p.His721Gln) is reported in the homozygous state in an individual with rod-cone dystrophy and is considered disease-causing (Audo 2018). Based on available information, the p.His721Pro variant is considered to be likely pathogenic. References: Audo I et al. MERTK mutation update in inherited retinal diseases. Hum Mutat. 2018 Jul;39(7):887-913.

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