ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.711del (p.Lys239fs)

dbSNP: rs2139160608
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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 RCV001381649 SCV001580133 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys239Serfs*36) 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. ClinVar contains an entry for this variant (Variation ID: 1069706). This variant is also known as p.P237Pfs*40. This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 30072743). This variant is not present in population databases (gnomAD no frequency).

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