ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.465C>T (p.Tyr155=) (rs143447675)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035107 SCV000058747 benign not specified 2012-11-21 criteria provided, single submitter clinical testing Tyr155Tyr in exon 06 of EMD: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1.4% (54/3835) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; rs143447675).
GeneDx RCV000035107 SCV000168328 benign not specified 2014-03-19 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.
Invitae RCV000234779 SCV000283518 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035107 SCV000331087 benign not specified 2016-01-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770591 SCV000902040 benign Cardiomyopathy 2015-12-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000035107 SCV000917314 benign not specified 2018-07-09 criteria provided, single submitter clinical testing Variant summary: EMD c.465C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0013 in 87334 control chromosomes, including 69 hemizygotes (gnomAD). To our knowledge, no occurrence of c.465C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.

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