ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) (rs150266349)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766418 SCV000235734 uncertain significance not provided 2018-11-21 criteria provided, single submitter clinical testing The D150V variant of uncertain significance in the ANKRD1 gene has not been published as pathogenic or benign to our knowledge; however, it has been identified in conjunction with additional cardiogenetic variants in several other individuals referred for cardiomyopathy genetic testing at GeneDx. So far, segregation data is absent for these individuals due to insufficient participation by informative family members. The D150V variant 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 also occurs at a position that is conserved across species, and in silico analysis predicts D150V is probably damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014). Furthermore, D150V has been observed in approximately 23/23930 (0.1%) of alleles from individuals of African or African American background in large population cohorts, indicating it may be a rare benign variant in this population (Lek et al., 2016).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000183307 SCV000710891 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing The p.Asp150Val variant in ANKRD1 has not been previously reported in individual s with cardiomyopathy, but has been identified in 0.1% (23/23930) of African chr omosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitut e.org/; dbSNP rs150266349). This variant has been reported in ClinVar (Variation ID 201673) as of uncertain significance. Computational prediction tools and con servation analysis suggest that the p.Asp150Val variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asp150Val variant is uncertain.
Invitae RCV001089378 SCV000776770 likely benign ANKRD1-related dilated cardiomyopathy 2020-06-22 criteria provided, single submitter clinical testing

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