ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) (rs373081328)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000590019 SCV000705072 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000428724 SCV000528455 likely benign not specified 2016-06-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590019 SCV000694446 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.3405A>G (p.Ala1135Ala) variant causes a synonymous change involving a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant may affect ESE binding sites, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 56/120716 (1/2155), predominantly in the Latino cohort, 31/11574 (1/373), which does not exceed the estimated maximal expected allele frequency for a pathogenic ATP7B variant of 1/185. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS) - Possibly Benign".
Invitae RCV000631250 SCV000752275 benign Wilson disease 2017-10-28 criteria provided, single submitter clinical testing

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