ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2374dup (p.Asp792fs) (rs1057518205)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414572 SCV000491651 uncertain significance not specified 2016-10-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FGFR3 gene. The c.2374dupG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2374dupG variant causes a frameshift starting with codon Aspartic acid 792, changes this amino acid residue to a Glycine and creates a Stop codon at position 25 of the new reading frame, denoted p.Asp792GlyfsX25. This variant causes the last 15 amino acids of the normal FGFR3 protein to be replaced with 24 incorrect amino acids. This is expected to create a truncated, abnormal FGFR3 protein; however, it is not known if the resultant protein would lack normal function or activity. The c.2374dupG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant has been observed to be inherited from an apparently unaffected parent.

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