ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val)

dbSNP: rs1815800575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269555 SCV001449621 likely pathogenic not provided 2016-09-19 criteria provided, single submitter clinical testing
Invitae RCV001880193 SCV002247679 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-07-19 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FGFR1 protein function. ClinVar contains an entry for this variant (Variation ID: 988298). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 640 of the FGFR1 protein (p.Ala640Val).

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