ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) (rs121913103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000055766 SCV000992335 pathogenic Thanatophoric dysplasia type 1 2019-04-05 criteria provided, single submitter clinical testing This FGFR3 variant is absent from large population datasets and has been identified in individuals with thanatophoric dysplasia type I (TD I). c.2421A>G (p.Ter807Trp) results in the elimination of a termination codon and subsequent protein elongation. The 141 amino acid residues resulting from the elimination for the termination codon contain a highly hydrophobic domain that is rich in cysteine, which is consistent with the known molecular mechanism for TD type I. We consider this variant pathogenic.
GeneReviews RCV000055766 SCV000086715 pathologic Thanatophoric dysplasia type 1 2013-09-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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