ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) (rs768223019)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002536 SCV001160499 uncertain significance not specified 2019-05-03 criteria provided, single submitter clinical testing The FGFR1 c.1694C>T; p.Ser565Phe variant (rs768223019), to our knowledge, is not described in the medical literature or in gene-specific databases, and is observed on only 1 allele in the Genome Aggregation Database. The serine at codon 565 is moderately 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.
Baylor Genetics RCV001332494 SCV001524835 uncertain significance Encephalocraniocutaneous lipomatosis 2019-10-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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