ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2222T>C (p.Phe741Ser)

dbSNP: rs768999235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523360 SCV000621863 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing The F741S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The F741S variant is not observed in large population cohorts (Lek et al., 2016). F741S 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. This variant has been observed with another pathogenic variant in FGFR3.

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