ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.396C>T (p.His132=) (rs145985318)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035106 SCV000058746 likely benign not specified 2009-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035106 SCV000342536 benign not specified 2016-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000035106 SCV000512930 benign not specified 2015-07-02 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 RCV000474105 SCV000560793 benign Emery-Dreifuss muscular dystrophy 1, X-linked 2020-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000035106 SCV000613253 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621249 SCV000736790 benign Cardiovascular phenotype 2017-03-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770589 SCV000902038 likely benign Cardiomyopathy 2017-04-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000035106 SCV001363451 benign not specified 2019-01-21 criteria provided, single submitter clinical testing Variant summary: EMD c.396C>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 0.00081 in 199766 control chromosomes, including 61 hemizygotes (gnomAD). c.396C>T has been reported in the literature in one individual affected with Dilated Cardiomyopathy and was classified by the authors as likely benign (Pugh_2014). This report does not provide unequivocal conclusions about association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as benign. Based on the evidence outlined above, the variant was classified as benign.

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