ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)

dbSNP: rs761954313
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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 RCV001937933 SCV002183358 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1271Thrfs*24) in the RPGRIP1L gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the RPGRIP1L protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1408000). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is present in population databases (rs761954313, gnomAD 0.006%).
Fulgent Genetics, Fulgent Genetics RCV002490244 SCV002783059 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-03 criteria provided, single submitter clinical testing

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