ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.934_936del (p.Lys312del)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002957991 SCV003272677 uncertain significance Familial aplasia of the vermis 2023-12-11 criteria provided, single submitter clinical testing This variant, c.934_936del, results in the deletion of 1 amino acid(s) of the INPP5E protein (p.Lys312del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781316816, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with INPP5E-related conditions. ClinVar contains an entry for this variant (Variation ID: 2062768). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx RCV004798013 SCV005419755 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23386033)
Fulgent Genetics, Fulgent Genetics RCV005045093 SCV005679996 uncertain significance MORM syndrome; Joubert syndrome 1 2024-05-22 criteria provided, single submitter clinical testing

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