ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)

dbSNP: rs121918202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764506 SCV004570983 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-01-28 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: 1073). This premature translational stop signal has been observed in individual(s) with RPGRIP1L-related conditions (PMID: 17558409). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln345*) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409).
OMIM RCV000001128 SCV000021278 pathogenic Meckel syndrome, type 5 2007-07-01 no assertion criteria provided literature only

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