ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) (rs11882073)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756389 SCV000884185 likely benign not provided 2017-07-06 criteria provided, single submitter clinical testing The p.Arg1817His variant (rs11882073) has not been previously associated with hearing loss and is listed in the ClinVar database as likely benign (Variation ID: 227580). This variant is rare in the general population, and is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in African Americans of 0.49 % (identified in 118 out of 23,962 chromosomes). However, this variant affects an incompletely conserved amino acid and there are similar physiochemical properties between arginine and histidine (Alamut software v2.9). Therefore, the p.Arg1817His variant is likely to be benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000215776 SCV000340848 benign not specified 2016-05-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215776 SCV000270441 likely benign not specified 2015-05-26 criteria provided, single submitter clinical testing p.Arg1858His in exon 40 of MYH14: This variant is not expected to have clinical significance because it has been identified in 0.5% (52/9586) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs11882073).
PreventionGenetics RCV000215776 SCV000306876 likely benign not specified criteria provided, single submitter clinical testing

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