ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.*8T>C

gnomAD frequency: 0.00120  dbSNP: rs201560522
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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, Mass General Brigham Personalized Medicine RCV000154665 SCV000204342 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing c.*8T>C in the 3' UTR of MYH6: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (53/10406) of African chromoso mes by the Exome Aggregation Constortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201560522).
GeneDx RCV000154665 SCV000513794 benign not specified 2016-11-18 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154665 SCV000919831 benign not specified 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The MYH6 c.*8T>C variant involves the alteration of a non-conserved nucleotide in the 3' UTR. This variant was found in 109/277228 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.004411 (106/24030). This frequency is about 176 times the estimated maximal expected allele frequency of a pathogenic MYH6 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.

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