ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)

dbSNP: rs878853326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623072 SCV000741358 pathogenic Inborn genetic diseases 2016-03-21 criteria provided, single submitter clinical testing
Invitae RCV002516250 SCV003440705 pathogenic not provided 2022-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln917*) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1240 amino acid(s) of the RP1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 27160483, 27208204, 30731082). ClinVar contains an entry for this variant (Variation ID: 236414). 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). Therefore, variants that disrupt this region are expected to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225583 SCV000282519 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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