ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1272T>A (p.Thr424=) (rs1555338337)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525911 SCV000623638 uncertain significance Hypertrophic cardiomyopathy 2017-03-16 criteria provided, single submitter clinical testing This sequence change affects codon 424 of the MYH7 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYH7 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYH7-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995159 SCV001149192 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing

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