ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) (rs760952407)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256103 SCV000322022 likely pathogenic not provided 2016-06-07 criteria provided, single submitter clinical testing The c.1421delA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1421delA variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The c.1421delA variant causes a frameshift starting with codon Asparagine 474, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Asn474MetfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV001223286 SCV001395426 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn474Metfs*7) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs760952407, ExAC 0.01%). This variant has not been reported in the literature in individuals with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 265300). Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). For these reasons, this variant has been classified as Pathogenic.

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