ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) (rs201369510)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488371 SCV000575411 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000488371 SCV000231269 uncertain significance not provided 2015-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000488371 SCV000616729 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The V2347F variant in the FRAS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V2347F variant is observed in 151/66474 (0.23%) alleles from individuals of European (non-Finnish) background, in the ExAC dataset (Lek et al., 2016). The V2347F variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V2347F as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000384240 SCV000451246 uncertain significance Cryptophthalmos syndrome 2016-06-14 criteria provided, single submitter clinical testing

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