ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn)

gnomAD frequency: 0.00007  dbSNP: rs1006177908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063350 SCV001228190 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 965 of the CRB1 protein (p.Ser965Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 857633). 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. 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.
Natera, Inc. RCV001827405 SCV002090193 uncertain significance Leber congenital amaurosis 2021-06-01 no assertion criteria provided clinical testing

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