ClinVar Miner

Submissions for variant NM_000258.2(MYL3):c.482-14C>A (rs201780962)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036027 SCV000059679 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing 482-14C>A in MYL3: This variant is not expected to have clinical significance be cause it has been identified in 0.16% (6/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS/) 482-14C>A in MYL3 (allele frequency = 0.16%, 6/3738) **
GeneDx RCV000036027 SCV000170568 benign not specified 2011-07-16 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.
Integrated Genetics/Laboratory Corporation of America RCV000590416 SCV000696364 benign not provided 2017-05-18 criteria provided, single submitter clinical testing Variant summary: The MYL3 c.482-14C>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that the variant may introduce an SF2/ASF ESE site at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC in 21 of 120512 control chromosomes from all ethnicities, but was observed predominantly in the African subpopulation at a frequency of 0.001747 (18/10302). This frequency is about 70 times the estimated maximal expected allele frequency of a pathogenic MYL3 variant (0.000025), strongly suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In the literature, the variant was identified in a patient with cardiomyopathy, but without strong support for pathogenicity. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign or benign. Taken together, this variant is classified as benign.

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