ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser)

dbSNP: rs1563474845
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702519 SCV000831377 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2020-04-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FGFR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 579277). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with serine at codon 355 of the FGFR1 protein (p.Trp355Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine.

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