ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) (rs146569520)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000415975 SCV000612354 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415975 SCV000493216 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000613613 SCV000744191 likely benign Spinocerebellar ataxia, autosomal recessive 10 2016-09-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613613 SCV000734281 likely benign Spinocerebellar ataxia, autosomal recessive 10 no assertion criteria provided clinical testing
GeneDx RCV000415975 SCV000529825 uncertain significance not provided 2016-07-13 criteria provided, single submitter clinical testing The Y327C variant in the ANO10 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports Y327C was observed in 60/8600 (0.7%) alleles from individuals of European American background, indicating it may be a rare variant in this population. The Y327C variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Y327C as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000330384 SCV000444335 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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