ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.2609C>T (p.Ser870Phe)

gnomAD frequency: 0.00003  dbSNP: rs75217495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305233 SCV001494556 uncertain significance Dystonic disorder 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 870 of the ANO3 protein (p.Ser870Phe). This variant is present in population databases (rs75217495, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ANO3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007973). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ANO3 protein function with a positive predictive value of 95%. 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.
Centogene AG - the Rare Disease Company RCV001810022 SCV002059431 uncertain significance Dystonia 24 2020-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543125 SCV003543400 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.2609C>T (p.S870F) alteration is located in exon 25 (coding exon 25) of the ANO3 gene. This alteration results from a C to T substitution at nucleotide position 2609, causing the serine (S) at amino acid position 870 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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