ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810533 SCV000950743 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 437 of the INF2 protein (p.Pro437Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. While this variant is present in population databases (rs746697423), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with INF2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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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