ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg)

gnomAD frequency: 0.00030  dbSNP: rs375226924
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082003 SCV000113938 uncertain significance not provided 2013-08-14 criteria provided, single submitter clinical testing
Invitae RCV001345967 SCV001540122 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 126 of the RPGRIP1 protein (p.Gly126Arg). This variant is present in population databases (rs375226924, gnomAD 0.1%). 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: 95951). 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 RCV001800388 SCV002045386 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800389 SCV002045397 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019574 SCV005015354 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.376G>C (p.G126R) alteration is located in exon 3 (coding exon 3) of the RPGRIP1 gene. This alteration results from a G to C substitution at nucleotide position 376, causing the glycine (G) at amino acid position 126 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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