ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3598G>C (p.Asp1200His) (rs764338863)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534118 SCV000652117 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2016-12-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 1200 of the INF2 protein (p.Asp1200His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs764338863, ExAC 0.02%) but has not been reported in the literature in individuals with a INF2-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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