Submissions for variant NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn)

gnomAD frequency: 0.00011  dbSNP: rs562958780

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001551726	SCV001772294	likely benign	not provided	2021-07-13	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27311873, 27535533)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002032587	SCV002165556	likely benign	Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome	2022-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002568333	SCV003699852	likely benign	Inborn genetic diseases	2022-01-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.