ClinVar Miner

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

dbSNP: 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 pathogenic Familial aplasia of the vermis 2023-05-04 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the INPP5E gene (p.Cys641Serfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the INPP5E protein and extend the protein by 3 additional amino acid residues. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the INPP5E protein in which other variant(s) (p.Cys641Arg) have been determined to be pathogenic (PMID: 23386033). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 581255). This variant has not been reported in the literature in individuals affected with INPP5E-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%).

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