ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.820T>C (p.Tyr274His) (rs377074932)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621906 SCV000740029 uncertain significance Cardiovascular phenotype 2018-12-28 criteria provided, single submitter clinical testing The p.Y274H variant (also known as c.820T>C), located in coding exon 8 of the ANKRD1 gene, results from a T to C substitution at nucleotide position 820. The tyrosine at codon 274 is replaced by histidine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000981647 SCV001129626 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Invitae RCV001414313 SCV001616444 likely benign ANKRD1-related dilated cardiomyopathy 2020-08-03 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157115 SCV000206838 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-10-06 no assertion criteria provided clinical testing

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