ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1469A>T (p.Asp490Val)

dbSNP: rs1835715112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001976893 SCV002261072 uncertain significance Familial aplasia of the vermis 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 490 of the INPP5E protein (p.Asp490Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with INPP5E-related conditions. 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 expected to disrupt INPP5E protein function. 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.

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