ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.355C>A (p.Gln119Lys)

gnomAD frequency: 0.00005  dbSNP: rs398123157
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727407 SCV000573040 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD)
Eurofins Ntd Llc (ga) RCV000727407 SCV000708277 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000687906 SCV000815498 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-08-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798859 SCV002041946 uncertain significance Cardiomyopathy 2019-10-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727407 SCV005329775 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing EMD: BP4, BS2
Ambry Genetics RCV004992262 SCV005575270 likely benign Cardiovascular phenotype 2024-12-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV004992262 SCV006066421 uncertain significance Cardiovascular phenotype 2025-04-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834570 SCV002084687 uncertain significance Emery-Dreifuss muscular dystrophy 2020-07-16 no assertion criteria provided clinical testing

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