ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2407_*5delinsCCCTG (p.Gly803_Ter807delinsProXaa) (rs1064796266)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479750 SCV000572815 likely pathogenic not provided 2017-02-06 criteria provided, single submitter clinical testing The c.2407_*5del20insCCCTG likely pathogenic variant in the FGFR3 gene causes a frameshift starting with codon Glycine 803, changes this amino acid to a Proline residue and creates a Stop codon at position 101 of the new reading frame, denoted p.Gly803ProfsX101. This variant is predicted to result in protein elongation as the last four amino acids are replaced by 100 aberrant amino acids. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Although this variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of an FGFR3-related skeletal dysplasia. This variant has been observed apparently de novo.

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