ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)

dbSNP: rs1667262233
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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 RCV002025443 SCV002276869 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 1369 of the CRB1 protein (p.Thr1369Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV003146448 SCV003829989 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453918 SCV004180907 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453919 SCV004180909 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453917 SCV004180910 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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