ClinVar Miner

Submissions for variant NM_015850.4(FGFR1):c.1595_1597TGA[1] (p.Met533del) (rs1554551657)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521341 SCV000616719 likely pathogenic not provided 2017-09-18 criteria provided, single submitter clinical testing The c.1604_1606delTGA variant in the FGFR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes an in-frame deletion of codon Methionine 535, denoted p.Met535del. The c.1604_1606delTGA variant is not observed in large population cohorts (Lek et al., 2016). The deleted amino acid is a residue that is conserved across species and within the protein kinase domain. In silico analysis predicts that deletion of this variant is probably damaging to the protein structure/function. We interpret c.1604_1606delTGA as a likely pathogenic variant.
Muenke lab,National Institutes of Health RCV000591018 SCV000693753 pathogenic Hartsfield syndrome 2018-03-09 criteria provided, single submitter research Known disease association; ACMG criteria are met:PM1/PM2/PM4/PM5;PP3. Kinase domain; interferes with kinase activity of receptor dimers in zebrafish.

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