ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr)

gnomAD frequency: 0.00031  dbSNP: rs184926375
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593385 SCV000703243 uncertain significance not provided 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV001211496 SCV001383037 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 889 of the RPGRIP1 protein (p.Ala889Thr). This variant is present in population databases (rs184926375, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 498294). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPGRIP1 protein function. 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.
Genome-Nilou Lab RCV001800823 SCV002045144 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800824 SCV002045155 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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