ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.633G>A (p.Pro211=) (rs587781087)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771893 SCV000904657 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000127015 SCV000170548 benign not specified 2011-07-18 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.
Integrated Genetics/Laboratory Corporation of America RCV000127015 SCV000919834 uncertain significance not specified 2018-04-16 criteria provided, single submitter clinical testing Variant summary: MYH7 c.633G>A 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 7.2e-05 in 277242 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in MYH7 causing Cardiomyopathy (7.2e-05 vs 0.0013), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.633G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000472231 SCV000557955 likely benign Hypertrophic cardiomyopathy 2016-07-15 criteria provided, single submitter clinical testing

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