ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) (rs148663672)

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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 RCV000488060 SCV000575410 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000375909 SCV000895639 uncertain significance Cryptophthalmos syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000488060 SCV000565022 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The L1550F variant in the FRAS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L1550F variant is observed in 241/66,284 (0.36%) alleles from individuals of European (non-Finnish) background in the ExAC dataset (Lek et al., 2016). The L1550F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. While this substitution occurs at a position that is conserved 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 L1550F as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000375909 SCV000451206 uncertain significance Cryptophthalmos syndrome 2016-06-14 criteria provided, single submitter clinical testing

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