ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)

dbSNP: rs62645755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764800 SCV004569174 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-06-23 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Glu710 amino acid residue in CRB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20591486, 20956273, 28041643, 28559085). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 99875). This missense change has been observed in individual(s) with CRB1-related conditions (PMID: 15024725; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 710 of the CRB1 protein (p.Glu710Gln). This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon.
Retina International RCV000086313 SCV000118459 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250598 SCV001425466 likely pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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