ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)

dbSNP: rs61751270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989176 SCV001139396 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858702 SCV002230251 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln920Hisfs*14) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 11283794). It has also been observed to segregate with disease in related individuals. This variant is also known as Gln893(1-bp ins) . ClinVar contains an entry for this variant (Variation ID: 803005). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002225121 SCV000025450 pathogenic Leber congenital amaurosis 6 2001-05-01 no assertion criteria provided literature only

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