ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1089_1090dup (p.Val364fs)

dbSNP: rs768719934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956430 SCV002243663 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-12-21 criteria provided, single submitter clinical testing This variant is also known as c.1083_1084insGA. This premature translational stop signal has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 23847139). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val364Glufs*12) 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). For these reasons, this variant has been classified as Pathogenic.

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