Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000403427 | SCV000339062 | uncertain significance | not provided | 2016-01-29 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000791184 | SCV000930465 | uncertain significance | PRPH2-Related Disorders | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001165007 | SCV001327171 | uncertain significance | Patterned macular dystrophy 1 | 2017-04-27 | 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, |
RCV001165008 | SCV001327172 | uncertain significance | Retinitis pigmentosa | 2017-04-27 | 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, |
RCV001165009 | SCV001327173 | uncertain significance | Adult-onset foveomacular vitelliform dystrophy | 2017-04-27 | 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, |
RCV001165010 | SCV001327174 | uncertain significance | Choroidal dystrophy, central areolar 2 | 2017-04-27 | 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, |
RCV001165011 | SCV001327175 | uncertain significance | Pigmentary retinal dystrophy | 2017-04-27 | 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, |
RCV001165012 | SCV001327176 | uncertain significance | Cone-rod dystrophy | 2017-04-27 | 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. |
Invitae | RCV000791184 | SCV001576972 | pathogenic | PRPH2-Related Disorders | 2023-09-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 123 of the PRPH2 protein (p.Arg123Trp). This variant is present in population databases (rs563581127, gnomAD 0.1%). This missense change has been observed in individuals with autosomal dominant inherited retinal dystrophy (PMID: 16767206, 19038374; Invitae). ClinVar contains an entry for this variant (Variation ID: 285861). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV000403427 | SCV001744950 | likely pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |