ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)

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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 RCV002829722 SCV003218730 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-04-15 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of hypogonadotropic hypogonadism (Invitae). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is not present in population databases (gnomAD no frequency). This variant, c.1592_1594del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the FGFR1 protein (p.Glu531_Met532delinsVal).

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