ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.751-4C>A (rs780419708)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253076 SCV000320543 uncertain significance Cardiovascular phenotype 2015-11-17 criteria provided, single submitter clinical testing The c.751-4C>A intronic variant results from a C to A substitution 4 nucleotides upstream from coding exon 8 in the ANKRD1 gene. Based on data from ExAC, the A allele was reported in 8 of 121250 (0.006%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed November 16, 2015]).This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000966643 SCV001113986 likely benign not provided 2018-02-19 criteria provided, single submitter clinical testing
Invitae RCV001440350 SCV001643258 likely benign ANKRD1-related dilated cardiomyopathy 2020-01-21 criteria provided, single submitter clinical testing

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