ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu)

gnomAD frequency: 0.00001  dbSNP: rs547876047
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067802 SCV001232883 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-07-29 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 129 of the RPGRIP1 protein (p.His129Leu). This variant is not present in population databases (gnomAD no frequency). 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: 861300). 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.
Illumina Laboratory Services, Illumina RCV001114355 SCV001272233 uncertain significance Leber congenital amaurosis 6 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001114356 SCV001272234 uncertain significance Cone-rod dystrophy 13 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001114355 SCV002045408 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001114356 SCV002045419 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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