ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)

dbSNP: rs1433518605
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074881 SCV001240485 likely pathogenic Retinal dystrophy 2019-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001308869 SCV001498344 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-09-26 criteria provided, single submitter clinical testing This variant, c.2365_2367del, results in the deletion of 1 amino acid(s) of the CRB1 protein (p.Asn789del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with retinal dystrophy (PMID: 22065545). 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: 866672). This variant disrupts the p.Asn789 amino acid residue in CRB1. Other variant(s) that disrupt this residue have been observed in individuals with CRB1-related conditions (PMID: 24265693), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001553389 SCV001774249 pathogenic not provided 2019-12-19 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22065545)
Baylor Genetics RCV003473706 SCV004211192 likely pathogenic Leber congenital amaurosis 8 2024-02-21 criteria provided, single submitter clinical testing

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