ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser)

dbSNP: rs1664351600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321169 SCV001511988 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 689 of the CRB1 protein (p.Asn689Ser). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1021412). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Natera, Inc. RCV001835612 SCV002090160 uncertain significance Leber congenital amaurosis 2020-09-08 no assertion criteria provided clinical testing

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