ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.2417C>T (p.Thr806Met) (rs374547489)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002305 SCV001160196 uncertain significance not specified 2019-01-09 criteria provided, single submitter clinical testing The FGFR3 c.2417C>T; p.Thr806Met variant (rs374547489), to our knowledge, is not reported in the medical literature or in gene-specific databases, and is only found on 2 alleles in the Genome Aggregation Database. The threonine at codon 806 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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