ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) (rs199544087)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733922 SCV000862027 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,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.
Database of Curated Mutations (DoCM) RCV000418578 SCV000505300 likely pathogenic Myeloproliferative disorder 2014-12-26 no assertion criteria provided literature only

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