ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1191C>A (p.Ile397=)

dbSNP: rs558778286
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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 RCV001938183 SCV002188414 uncertain significance Familial aplasia of the vermis 2024-10-23 criteria provided, single submitter clinical testing This sequence change affects codon 397 of the INPP5E mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the INPP5E protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1417138). 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.
PreventionGenetics, part of Exact Sciences RCV004756317 SCV005349580 likely benign INPP5E-related disorder 2024-01-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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