ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.2845G>T (p.Val949Phe)

gnomAD frequency: 0.00001  dbSNP: rs483352742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000087227 SCV003798877 uncertain significance not provided 2023-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Splicing predictors suggest this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Richard Lifton Laboratory, Yale University School of Medicine RCV000087227 SCV000120090 unknown not provided flagged submission not provided Converted during submission to Uncertain significance.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087227 SCV000155194 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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