ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1922del (p.Cys641fs) (rs1431917892)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705026 SCV000834005 likely pathogenic Joubert syndrome 2017-08-16 criteria provided, single submitter clinical testing This sequence change is a frameshift in the final exon of the INPP5E gene (p.Cys641Serfs*8). It is expected to disrupt the last 4 amino acids of the INPP5E protein and extend the length of the protein by an additional 3 amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with INPP5E-related disease. A missense substitution within this region (p.Cys641Arg) has been determined to be pathogenic (PMID: 23386033). This suggests that the cysteine residue at codon 641 is critical for INPP5E protein function and that other variants that disrupt this position, including this frameshift variant, may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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