ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)

dbSNP: rs910489135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067848 SCV001232929 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 880 of the CRB1 protein (p.Asn880Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CRB1-related conditions (PMID: 28041643, 34884448; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 438076). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CRB1 protein function. For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376401 SCV001573525 uncertain significance Retinitis pigmentosa 12 2021-04-08 criteria provided, single submitter research The CRB1 c.2639A>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PM3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Baylor Genetics RCV003476198 SCV004211153 likely pathogenic Leber congenital amaurosis 8 2024-02-20 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504944 SCV000598916 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Natera, Inc. RCV001834627 SCV002090182 uncertain significance Leber congenital amaurosis 2021-03-24 no assertion criteria provided clinical testing

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