ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3278C>T (p.Ala1093Val) (rs749676865)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218960 SCV000272169 uncertain significance not specified 2015-11-12 criteria provided, single submitter clinical testing The p.Ala1093Val variant in MYOM1 has not been previously reported in individual s with cardiomyopathy, but has been identified in 3/58954 European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs749676865). Alanine (Ala) at position 1093 is not conserved in mammals or evol utionarily distant species and 2 mammals (black flying fox, megabat) carry a val ine (Val) at this position, raising the possibility that this change may be tole rated. In summary, the clinical significance of the p.Ala1093Val variant is unce rtain.

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