ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.4396C>T (p.Arg1466Trp) (rs139134727)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151329 SCV000199299 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg1466Trp in Exon 32 of MYH9: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (35/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs139134727).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726552 SCV000345457 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293752 SCV000438346 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348717 SCV000438347 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000726552 SCV000589345 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing The R1466W variant in the MYH9 gene has been reported previously in at least two individuals with thrombocytopenia, but detailed clinical information and segregation information were not provided (Rabbolini et al., 2017). The R1466W variant is observed in 387/126,174 (0.3%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). The R1466W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R1466W as a variant of uncertain significance.
Invitae RCV000726552 SCV001036430 likely benign not provided 2018-12-14 criteria provided, single submitter clinical testing

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