ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter)

dbSNP: rs2139160679
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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 RCV001963002 SCV002232739 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1455333). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 29343940). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser256*) 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).

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