ClinVar Miner

Submissions for variant NM_000141.4(FGFR2):c.23T>G (p.Ile8Ser) (rs147307031)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756160 SCV000883886 likely benign not provided 2018-03-25 criteria provided, single submitter clinical testing The c.23T>G; p.Ile8Ser variant (rs147307031) has been reported in a patient with craniosynostosis; however, this patient also harbored another pathogenic variant, and the authors classified the p.Ile8Ser variant as “not pathogenic” (Goos 2015). This variant was also detected in a cohort of healthy individuals (Bodian 2014), is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.3% (identified on 63 out of 24,026 chromosomes, including one homozygote) and is classified as benign in ClinVar (variant ID: 134388). The isoleucine at position 8 is weakly conserved, considering 12 species, and computational analyses of the effects of the p.Ile8Ser variant on protein structure and function make conflicting predictions (SIFT: damaging, PolyPhen-2: benign ). Based on the available information, the p.Ile8Ser variant is likely to be benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121062 SCV000332753 benign not specified 2015-07-01 criteria provided, single submitter clinical testing
ITMI RCV000121062 SCV000085230 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000655422 SCV000777352 benign FGFR2 related craniosynostosis 2017-12-24 criteria provided, single submitter clinical testing

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