ClinVar Miner

Submissions for variant NM_018685.5(ANLN):c.191C>G (p.Pro64Arg)

gnomAD frequency: 0.00003  dbSNP: rs200238245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002552032 SCV003271825 uncertain significance not provided 2023-07-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ANLN-related conditions. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 64 of the ANLN protein (p.Pro64Arg). This variant is present in population databases (rs200238245, gnomAD 0.02%). ClinVar contains an entry for this variant (Variation ID: 829977). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029937 SCV001192733 uncertain significance Focal segmental glomerulosclerosis 8 2019-11-18 no assertion criteria provided clinical testing

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