ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.1082A>G (p.His361Arg)

gnomAD frequency: 0.00001  dbSNP: rs1236924890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900604 SCV002139410 uncertain significance not provided 2021-08-12 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 tolerated. This variant has not been reported in the literature in individuals affected with PRPF8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 361 of the PRPF8 protein (p.His361Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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