ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.506C>T (p.Pro169Leu)

gnomAD frequency: 0.00001  dbSNP: rs1232108345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051425 SCV001215578 uncertain significance Familial aplasia of the vermis 2021-02-24 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with INPP5E-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces proline with leucine at codon 169 of the INPP5E protein (p.Pro169Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine.

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