ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)

gnomAD frequency: 0.00009  dbSNP: rs114630940
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000376545 SCV000339090 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004529472 SCV000914376 uncertain significance CRB1-related disorder 2018-10-23 criteria provided, single submitter clinical testing The CRB1 c.2809G>A (p.Ala937Thr) variant is a missense variant that has been reported in two studies, in which it is found in a total of two individuals including in a compound heterozygous state with a second missense variant in an individual with retinitis pigmentosa (Xu et al. 2010) and in a heterozygous state in one individual with Leber congenital amaurosis. It is not clear if other variants were found in the heterozygous individual (Seong et al. 2008). This variant is not reported in individuals with pigmented paravenous chorioretinal atrophy. Control data are unavailable for this variant, which is reported at a frequency of 0.003233 in the East Asian population in the Genome Aggregation Database. One homozygote is also reported in the Genome Aggregation Database. Based on the limited evidence, the p.Ala937Thr variant is classified as a variant of uncertain significance but suspicious for pathogenicity for CRB1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV001080703 SCV001099185 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888680 SCV004706196 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001275656 SCV001460947 likely benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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