ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) (rs200662973)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490432 SCV000267408 likely pathogenic Myopathy, proximal, and ophthalmoplegia 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455902 SCV000539832 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1.1% East Asian ExAC, 2 homozygotes, not in ClinVar. Cai 2011 reported the variant in 3/21 Jpanese patients with inclusion body myositis. Clinical features of IBM include adult-onset weakness of proximal or distal muscle and normal or slightly elevated serum creatine kinase (CK) level. This variant has not been associated with myopathy ith external ophthalmoplegia. Therefore, despite of the classification of the variant, I do not think the disease meets criteria for reporting in BabySeq.
Invitae RCV000490432 SCV000641379 benign Myopathy, proximal, and ophthalmoplegia 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000490432 SCV001140297 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490432 SCV001275564 benign Myopathy, proximal, and ophthalmoplegia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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