ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)

gnomAD frequency: 0.00001  dbSNP: rs776591659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000684930 SCV000812393 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 850 of the CRB1 protein (p.Gly850Ser). This variant is present in population databases (rs776591659, gnomAD 0.004%). This missense change has been observed in individuals with CRB1-related diseases and Leber congenital amaurosis (PMID: 15459956, 20591486, 20956273). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 565382). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CRB1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472183 SCV004211148 pathogenic Leber congenital amaurosis 8 2023-08-30 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV001542641 SCV001759999 likely pathogenic Retinitis pigmentosa 12 no assertion criteria provided clinical testing

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