ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.452C>T (p.Thr151Ile) (rs1060501180)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464431 SCV000545217 uncertain significance Primary ciliary dyskinesia 2016-08-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 151 of the RPGR protein (p.Thr151Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RPGR-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). The isoleucine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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