ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)

dbSNP: rs369184026
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049924 SCV001214003 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1005 of the CRB1 protein (p.Asp1005Val). This variant is present in population databases (rs369184026, gnomAD 0.005%). This missense change has been observed in individual(s) with CRB1-related conditions (PMID: 23379534, 28559085). 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: 846589). 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.
Blueprint Genetics RCV001073588 SCV001239139 pathogenic Retinal dystrophy 2019-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001250611 SCV004180112 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455213 SCV004180113 pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455212 SCV004180115 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001250611 SCV004211145 pathogenic Leber congenital amaurosis 8 2023-08-31 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250611 SCV001425480 likely pathogenic Leber congenital amaurosis 8 no assertion criteria provided research
Natera, Inc. RCV001832464 SCV002090197 pathogenic Leber congenital amaurosis 2021-03-26 no assertion criteria provided clinical testing

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