ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1009T>G (p.Phe337Val)

dbSNP: rs1227163239
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267936 SCV001446453 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001644964 SCV001519097 likely pathogenic Autosomal recessive spinocerebellar ataxia 10 2021-07-12 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001267936 SCV004292684 pathogenic not provided 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 337 of the ANO10 protein (p.Phe337Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individuals with spinocerebellar ataxia (PMID: 25089919, 27045840, 34445196). ClinVar contains an entry for this variant (Variation ID: 986820). 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 ANO10 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects ANO10 function (PMID: 32620747). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001267936 SCV004700074 likely pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing ANO10: PM3:Strong, PM2

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