ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.2737+94C>T

dbSNP: rs867038222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483008 SCV000570781 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing The S681F variant, present in an alternate transcript of the DIAPH3 gene, has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Data from control individuals in the NHBI Exome Sequencing Project were not available to assess whether the S681F variant may be a common benign variant in the general population. The S681F 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. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S681F as a variant of uncertain significance.

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