ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3773C>T (p.Thr1258Ile)

gnomAD frequency: 0.00001  dbSNP: rs759191514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360496 SCV001556416 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-03-10 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1052335). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 22261762). This variant is present in population databases (rs759191514, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1258 of the RPGRIP1 protein (p.Thr1258Ile).
Revvity Omics, Revvity RCV003130498 SCV003811882 uncertain significance not provided 2022-03-21 criteria provided, single submitter clinical testing

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