ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) (rs62642584)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085192 SCV000574761 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763389 SCV000894093 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763389 SCV001224972 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu102*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs62642584, ExAC 0.002%). This variant has been observed to segregate with Leber congenital amaurosis in at least one family and is present in additional individuals affected with retinal dystrophy (PMID: 15512997, 11035546, 30268864). ClinVar contains an entry for this variant (Variation ID: 98863). Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 18632300). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085192 SCV000117329 not provided not provided no assertion provided not provided
GenomeConnect, ClinGen RCV001249229 SCV001423163 not provided RPE65-Related Disorders no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 02-05-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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