Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733922 | SCV000862027 | uncertain significance | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000850 | SCV001157922 | uncertain significance | not specified | 2018-10-06 | criteria provided, single submitter | clinical testing | The FGFR3 c.1657G>A; p.Val553Met variant (rs199544087), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Finnish European population with an allele frequency of 0.086% (22/25,666 alleles) in the Genome Aggregation Database. The valine at codon 553 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Val553Met variant is uncertain at this time. |
Invitae | RCV000733922 | SCV002507803 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003418106 | SCV004106311 | uncertain significance | FGFR3-related condition | 2023-08-22 | criteria provided, single submitter | clinical testing | The FGFR3 c.1657G>A variant is predicted to result in the amino acid substitution p.Val553Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.084% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-1807488-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Database of Curated Mutations |
RCV000418578 | SCV000505300 | likely pathogenic | Myeloproliferative disorder | 2014-12-26 | no assertion criteria provided | literature only |