ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) (rs865358)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620794 SCV000738283 benign Cardiovascular phenotype 2014-12-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602295 SCV000734239 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175377 SCV000226850 benign not specified 2015-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000175377 SCV000524354 benign not specified 2016-09-22 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.
Illumina Clinical Services Laboratory,Illumina RCV000328093 SCV000440299 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588956 SCV000699792 benign not provided 2016-02-11 criteria provided, single submitter clinical testing Variant summary: MYLK c.3402C>T variant affects a conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts the variant is a polymorphism, and 5/5 Alamut algorithms predict no significant effect on splicing. However, these predictions have not been verified with functional studies. This variant is found in 119276/121410 control chromosomes (58732 homozygotes) at a frequency of 0.9824232, which is about 78593 times of maximal expected frequency of a pathogenic allele (0.0000125), suggesting this variant is the ancestral allele and is benign. Taken together, this variant was classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000175377 SCV000269299 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Asn1134Asn in exon 18 of MYLK: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 16.5% (728/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs865358).
PreventionGenetics RCV000175377 SCV000315286 benign not specified criteria provided, single submitter clinical testing

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