ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.652-10A>T

gnomAD frequency: 0.00023  dbSNP: rs397517252
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038854 SCV000062532 uncertain significance not specified 2012-11-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 652-10A>T varia nt in ANKRD1 has not been reported in the literature nor previously identified b y our laboratory. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing and this variant is closer to the co nsensus sequence than the wild-type, though this information is not predictive e nough to rule out pathogenicity. In summary, this variant is more likely benign based on its location and predicted impact on splicing, but additional studies a re needed to fully assess its clinical significance.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000606197 SCV000745110 likely benign Congenital total pulmonary venous return anomaly 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000826980 SCV000968586 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Invitae RCV001452367 SCV001656026 likely benign ANKRD1-related dilated cardiomyopathy 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952440 SCV004770405 likely benign ANKRD1-related condition 2019-07-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606197 SCV000732969 likely benign Congenital total pulmonary venous return anomaly no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038854 SCV001924479 benign not specified no assertion criteria provided clinical testing

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