ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2036C>T (p.Thr679Ile)

dbSNP: rs2139228509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001967107 SCV002202420 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-12-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 679 of the RPGRIP1 protein (p.Thr679Ile). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individual(s) with cone rod dystrophy (Invitae). This variant is not present in population databases (gnomAD no frequency).

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