ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.4171del (p.Gln1391fs)

dbSNP: rs2129317503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376506 SCV001573679 likely pathogenic Retinitis pigmentosa 1 2021-04-08 criteria provided, single submitter research The RP1 c.4171del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely pathogenic.
Invitae RCV002550239 SCV002965312 pathogenic not provided 2022-03-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RP1 protein in which other variant(s) (p.Ile2061Serfs*12) have been determined to be pathogenic (PMID: 11527933, 19933189, 29425069, 30027431, 33681214). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1065776). This variant is also known as c.4171delC (p.Gln1391Lysfs*7. This premature translational stop signal has been observed in individuals with autosomal recessive retinitis pigmentosa (PMID: 32565670; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1391Lysfs*6) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 766 amino acid(s) of the RP1 protein.

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