ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3305C>T (p.Pro1102Leu)

gnomAD frequency: 0.00001  dbSNP: rs779176784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001323704 SCV001514631 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2020-05-27 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. This variant has not been reported in the literature in individuals with INF2-related conditions. This variant is present in population databases (rs779176784, ExAC 0.02%). This sequence change replaces proline with leucine at codon 1102 of the INF2 protein (p.Pro1102Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine.

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