ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.4225G>A (p.Asp1409Asn) (rs34292387)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151333 SCV000199304 uncertain significance not specified 2013-04-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp1409Asn vari ant in MYH9 has not been reported in the literature nor previously identified by our laboratory. The variant has been seen in 0.07% (6/8600) of European America n chromosomes in a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; rs142486910). Computational analyses (biochemical a mino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provi de strong support for or against an impact to the protein. In summary, a conclus ive interpretation of the impact of this variant cannot be determined but we wou ld lean towards a more likely benign role given the presence of the variant in t he general population which is less consistent with the dominant association of mutations in this gene.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724779 SCV000229423 uncertain significance not provided 2015-07-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386272 SCV000438362 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291994 SCV000438363 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000151333 SCV000618042 likely benign not specified 2017-12-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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