ClinVar Miner

Submissions for variant NM_018685.5(ANLN):c.1138C>T (p.Arg380Cys)

gnomAD frequency: 0.00002  dbSNP: rs201613256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001855016 SCV002267370 uncertain significance not provided 2023-04-26 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ANLN protein function. ClinVar contains an entry for this variant (Variation ID: 266013). This variant has not been reported in the literature in individuals affected with ANLN-related conditions. This variant is present in population databases (rs201613256, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 380 of the ANLN protein (p.Arg380Cys).
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000256403 SCV000323172 uncertain significance Focal segmental glomerulosclerosis 8 no assertion criteria provided clinical testing

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