ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.346-19T>A

gnomAD frequency: 0.05519  dbSNP: rs10881854
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123655 SCV000166994 benign not specified 2013-07-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590162 SCV000699378 benign not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The ANKRD1 c.346-19T>A variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 473/8436 control chromosomes (12 homozygotes) from ExAC at a frequency of 0.0560692, which is approximately 1631 times the estimated maximal expected allele frequency of a pathogenic ANKRD1 variant (0.0000344), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory (via ClinVar) has classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Taken together, this variant is classified as benign.
Invitae RCV002055416 SCV002335621 benign ANKRD1-related dilated cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000123655 SCV001920967 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000123655 SCV001930271 benign not specified no assertion criteria provided clinical testing

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