ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.3190C>T (p.His1064Tyr) (rs755409090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208137 SCV000264115 uncertain significance Sudden cardiac death 2015-10-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000613984 SCV000731706 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing p.His1064Tyr in exon 21 of MYOM1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, histidine (His) at position 1064 is not conserved in mammals or evolution arily distant species, and 39 species carry a tyrosine (Tyr), supporting that th is change may be tolerated. This variant has been identified in 3/25290 of Finni sh chromosomes by the genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org; dbSNP rs75540909), and has been reported in ClinVar (Variation ID# 222744).

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