ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser)

gnomAD frequency: 0.00077  dbSNP: rs200657688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473685 SCV001677839 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001751769 SCV001986202 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in an individual with juvenile retinitis pigmentosa in a published abstract who had a likely benign variant on the opposite allele (in trans), and no other variants in RPGRIP1 were reported in this individual (Koenekoop et al., 2004); Reported in association with Leber congenital amaurosis in published literature, but additional clinical information and segregation data were not included (Zernant et al., 2005; Walia et al., 2010); This variant is associated with the following publications: (PMID: 20079931, 16123401)
Genome-Nilou Lab RCV001800997 SCV002044503 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800998 SCV002044514 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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