ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr) (rs121918509)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414415 SCV000491207 pathogenic not provided 2016-12-07 criteria provided, single submitter clinical testing The A628T variant in the FGFR2 gene has been reported previously as de novo in one individual with autosomal dominant Lacrimo-auriculo-dento-digital (LADD) syndrome (Rohmann et al., 2006). The A628T 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. The A628T 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. This substitution occurs within the protein kinase domain at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A628T as a pathogenic variant.
OMIM RCV000014224 SCV000034472 pathogenic Levy-Hollister syndrome 2007-12-11 no assertion criteria provided literature only

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