ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1753C>T (p.Pro585Ser) (rs761163163)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658045 SCV000779816 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing The P585S variant in the FGFR3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P585S is observed in 6/25712 (0.023%) alleles from individuals of European (Finnish) background, in large population cohorts (Lek et al., 2016). The P585S 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret P585S as a variant of uncertain significance.

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