ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)

dbSNP: rs104894083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851696 SCV002215899 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln679*) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1478 amino acid(s) of the RP1 protein. This premature translational stop signal has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 10391212). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 5968).
Genetics and Molecular Pathology, SA Pathology RCV000006332 SCV002761556 pathogenic Retinitis pigmentosa 1 2020-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001851696 SCV003805960 likely pathogenic not provided 2022-08-18 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 1478 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30731082, 10465120, 10391212, 11527933, Lafont[article]2011)
OMIM RCV000006332 SCV000026514 pathogenic Retinitis pigmentosa 1 1999-08-01 no assertion criteria provided literature only

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