ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs)

dbSNP: rs1594280914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003769397 SCV004597250 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-06-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RPGRIP1 protein in which other variant(s) (Deletion (Exon 24)) have been determined to be pathogenic (Invitae). 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: 812428). This variant is also known as c.3663_6del4, p.K1221Nfs‚àó22. This premature translational stop signal has been observed in individual(s) with RPGRIP1-related conditions (PMID: 34722527). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1221Asnfs*23) in the RPGRIP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acid(s) of the RPGRIP1 protein.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003212 SCV001161290 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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