ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2635A>C (p.Met879Leu) (rs200328859)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151342 SCV000199316 likely benign not specified 2013-06-12 criteria provided, single submitter clinical testing The Met879Leu in Exon 22 of MYH9: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, cow, lizard and puffer fish have a leucine (Leu) at this position despite high nearby amino acid conservation. In addition, computational analyses (PolyP hen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein . This variant has been identified in 1/8600 of European American chromosomes by the NHLBI Exome Sequencing Project and in 1% (2/200) Chinese chromosomes by the 1000 Genomes Project (http://evs.gs.washington.edu/EVS/; dbSNP rs200328859).
Illumina Clinical Services Laboratory,Illumina RCV000306348 SCV000438412 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344830 SCV000438413 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing

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