ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2380C>A (p.His794Asn)

dbSNP: rs1294237377
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553580 SCV000650635 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2017-06-12 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on CRB1 function. The available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with a CRB1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with asparagine at codon 794 of the CRB1 protein (p.His794Asn). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and asparagine.

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