ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His)

gnomAD frequency: 0.00016  dbSNP: rs376250340
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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) RCV000153849 SCV000203432 uncertain significance not provided 2014-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001208275 SCV001379654 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 54 of the RPGRIP1 protein (p.Arg54His). This variant is present in population databases (rs376250340, gnomAD 0.06%). 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: 167604). 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 RCV001800463 SCV002045364 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800464 SCV002045375 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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