ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) (rs121913113)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807335 SCV000947383 pathogenic Craniosynostosis syndrome 2019-09-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 621 of the FGFR3 protein (p.Arg621His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with campylodactyly, tall stature and sensorineural hearing loss (PMID: 17033969, 27139183) and reported to segregate with disease in a family (PMID: 17033969). This variant is also known as c.1915G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 16355). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000017765 SCV000038043 pathogenic Camptodactyly-tall stature-scoliosis-hearing loss syndrome 2006-11-01 no assertion criteria provided literature only

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