ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.553G>A (p.Ala185Thr) (rs527236080)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315049 SCV001505605 uncertain significance not provided 2020-07-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 185 of the MAK protein (p.Ala185Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs527236080, ExAC 0.01%). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 24938718). ClinVar contains an entry for this variant (Variation ID: 143123). 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 RCV000132645 SCV000172596 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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