ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.6327C>A (p.Cys2109Ter)

dbSNP: rs1371811798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002590930 SCV002956577 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts a region of the RP1 protein in which other variant(s) (p.Ser2114del) have been observed in individuals with RP1-related conditions (PMID: 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. This variant has not been reported in the literature in individuals affected with RP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Cys2109*) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the RP1 protein.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817061 SCV005068985 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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