ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.496C>T (p.Arg166Cys) (rs527236081)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341119 SCV001534969 uncertain significance not provided 2020-09-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 166 of the MAK protein (p.Arg166Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs527236081, ExAC 0.006%). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 25324289). ClinVar contains an entry for this variant (Variation ID: 143122). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132644 SCV000172595 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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