ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg)

dbSNP: rs2073873973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197522 SCV001368301 likely pathogenic Retinitis pigmentosa 11 2019-11-12 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP3.
Invitae RCV001876281 SCV002251228 pathogenic not provided 2023-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 931178). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 253 of the PRPF31 protein (p.Gly253Arg).

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