ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys)

dbSNP: rs121913114
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730955 SCV000858723 pathogenic not provided 2017-12-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000017766 SCV001524467 pathogenic Achondroplasia 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000730955 SCV002507590 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 279 of the FGFR3 protein (p.Ser279Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with achondroplasia (PMID: 16912704). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 16356). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is expected to disrupt FGFR3 function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000730955 SCV002538896 likely pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing Observed in other patients with achondroplasia or hypochondroplasia in published literature and in a patient referred for genetic testing at GeneDx (Shelmerdine et al., 2016; Friez et al., 2008); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27257098, 19802676, 27028100, 26224133, Ahn[atricle]2016, 32227640, 25728633, 16912704, 17895900)
OMIM RCV000017766 SCV000038044 pathogenic Achondroplasia 2008-03-01 no assertion criteria provided literature only
OMIM RCV000017767 SCV000038045 pathogenic Hypochondroplasia 2008-03-01 no assertion criteria provided literature only

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