ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)

dbSNP: rs749987648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055818 SCV001220228 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys442Asnfs*3) 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 (rs764836087, gnomAD 0.02%). 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: 851426). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002482005 SCV002793504 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-07 criteria provided, single submitter clinical testing

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