ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)

gnomAD frequency: 0.00004  dbSNP: rs1277577195
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812456 SCV000952770 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys195*) 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). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 591393). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000722572 SCV002019896 likely pathogenic not provided 2022-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507274 SCV002815208 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-05-10 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722572 SCV000853703 uncertain significance not provided 2018-09-16 no assertion criteria provided research
Natera, Inc. RCV001273840 SCV001457425 pathogenic Familial aplasia of the vermis 2020-09-16 no assertion criteria provided clinical testing

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