ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.1087+1218G>A (rs879253719)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694780 SCV000823239 pathogenic FGFR2 related craniosynostosis 2018-09-26 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the FGFR2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Pfeiffer syndrome (PMID: 10394936, 12884424, 27481450, 26289989, 11807866). This variant is also known as c.952-1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 13291). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FGFR2 cause disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014215 SCV000034463 pathogenic Pfeiffer syndrome 2002-01-01 no assertion criteria provided literature only

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