ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1234dup (p.Met412fs)

dbSNP: rs760283610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988058 SCV001137623 pathogenic Retinitis pigmentosa 2019-05-28 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376505 SCV001573678 likely pathogenic Retinitis pigmentosa 1 2021-04-08 criteria provided, single submitter research The RP1 c.1234dup 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 RCV002549700 SCV002950466 pathogenic not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met412Asnfs*7) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1745 amino acid(s) of the RP1 protein. This variant is present in population databases (rs760283610, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with autosomal recessive retinitis pigmentosa (PMID: 30902645, 32005865, 32565670, 33576794). ClinVar contains an entry for this variant (Variation ID: 802404). This variant disrupts the C-terminus of the RP1 protein. Many variants that disrupt this region have been reported in individuals with either autosomal dominant or autosomal recessive retinitis pigmentosa (PMID: 11527933, 19933189, 29425069, 30027431, 33681214). Therefore, variants that disrupt this region are expected to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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