ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) (rs121918491)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192353 SCV000247372 pathogenic Craniosynostosis 2015-02-20 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000014184 SCV000328396 pathogenic Crouzon syndrome 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV000686210 SCV000813719 pathogenic FGFR2 related craniosynostosis 2019-11-07 criteria provided, single submitter clinical testing This sequence change affects codon 344 of the FGFR2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FGFR2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with craniosynostosis in families (PMID: 8957519, 16838304, 7874170, 7987400) and has also been reported in individuals affected with craniosynostosis and/or FGFR2 related conditions (PMID: 16158432, 25271085, 24127277). The variant is also known as c.1044G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 13268). Experimental studies have shown that this silent variant results in a change of 5 splice site leading to an mRNA that codes for a receptor lacking 17 amino acids of the third Ig domain which is involved in ligand binding (PMID: 7558045, 7773284). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000762800 SCV000893150 pathogenic Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation; Neoplasm of stomach; Bent bone dysplasia syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000014184 SCV000034432 pathogenic Crouzon syndrome 2005-10-15 no assertion criteria provided literature only
OMIM RCV000014185 SCV000034433 pathogenic Craniosynostosis, nonclassifiable autosomal dominant 2005-10-15 no assertion criteria provided literature only
OMIM RCV000014186 SCV000034434 pathogenic Scaphocephaly and axenfeld-rieger anomaly 2005-10-15 no assertion criteria provided literature only
Baylor Genetics RCV000014184 SCV000854608 pathogenic Crouzon syndrome 2018-11-18 no assertion criteria provided clinical testing

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