ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.818T>C (p.Met273Thr) (rs183061595)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724674 SCV000232726 uncertain significance not provided 2015-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000724674 SCV000534108 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ANKRD1 gene. The M273T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, it is classified as a variant of uncertain significance in ClinVar by a different clinical laboratory (ClinVar SCV000232726.1; Landrum et al., 2016), although additional evidence is not available. The M273T variant was observed in individuals of African ancestry at a frequency of approximately 0.15% (2/1322) of alleles in the 1000 Genomes project, 0.05% (2/4406) of alleles in the NHLBI Exome Sequencing Project, and 0.07% (7/10392) of alleles in the Exome Aggregation Consortium. Additionally, although M273T is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties, this substitution occurs at a position that is not conserved across species. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV001257070 SCV000553447 likely benign ANKRD1-related dilated cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing

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