ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)

gnomAD frequency: 0.00414  dbSNP: rs61755770
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086373 SCV001091980 benign PRPH2-related disorder 2024-01-24 criteria provided, single submitter clinical testing
Mendelics RCV000987700 SCV001137119 likely benign Patterned macular dystrophy 1 2023-03-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001161612 SCV001323504 likely benign Pigmentary retinal dystrophy 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000987700 SCV001323505 likely benign Patterned macular dystrophy 1 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001161613 SCV001323506 benign Retinitis pigmentosa 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001161614 SCV001323507 likely benign Choroidal dystrophy, central areolar 2 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001161615 SCV001323508 benign Adult-onset foveomacular vitelliform dystrophy 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001161616 SCV001323509 benign Cone-rod dystrophy 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000084954 SCV001829111 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11139241, 28492530, 20213611, 27884173, 20981092, 8956033)
Retina International RCV000084954 SCV000117090 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084954 SCV001745054 uncertain significance not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Julia Lopez, Manon Peeters. Comment: Variant observed de novo.

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