ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) (rs61751266)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047199 SCV001211139 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu370Asnfs*5) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 11283794, 30202406, 20079931, 24997176). This variant is also known as Lys342(1-bp del) in the literature. ClinVar contains an entry for this variant (Variation ID: 99809). Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000086238 SCV000118384 not provided not provided no assertion provided not provided
OMIM RCV000171128 SCV000223694 pathogenic Leber congenital amaurosis 6 2014-12-01 no assertion criteria provided literature only
Institute for Ophthalmic Research,University Tuebingen RCV000786015 SCV000924655 pathogenic Leber congenital amaurosis 2017-12-13 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000171128 SCV001133096 pathogenic Leber congenital amaurosis 6 2019-09-26 no assertion criteria provided clinical testing

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