ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1086A>T (p.Gln362His)

gnomAD frequency: 0.00001  dbSNP: rs1022182632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069305 SCV001234465 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 362 of the CRB1 protein (p.Gln362His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001828517 SCV002090129 uncertain significance Leber congenital amaurosis 2021-06-23 no assertion criteria provided clinical testing

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