Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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. |
Gene |
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 |