ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr) (rs753001340)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196839 SCV000255036 uncertain significance Joubert syndrome 2015-04-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 640 of the INPP5E protein (p.Ile640Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant has not been published in the literature and is present in population databases (no rsID, 0.001%). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. Although there is no indication that this variant causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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