ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.931C>G (p.Gln311Glu)

dbSNP: rs2131611242
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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 RCV001991220 SCV002263874 uncertain significance Familial aplasia of the vermis 2021-01-08 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt INPP5E protein function. This variant has not been reported in the literature in individuals with INPP5E-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 311 of the INPP5E protein (p.Gln311Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid.
PreventionGenetics, part of Exact Sciences RCV004529075 SCV004104723 uncertain significance INPP5E-related disorder 2023-07-03 criteria provided, single submitter clinical testing The INPP5E c.931C>G variant is predicted to result in the amino acid substitution p.Gln311Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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