ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)

gnomAD frequency: 0.00001  dbSNP: rs750795714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001967365 SCV002207134 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-07-12 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1429876). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is present in population databases (rs750795714, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 127 of the FGFR1 protein (p.Asp127Glu).
Fulgent Genetics, Fulgent Genetics RCV002491970 SCV002793122 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2022-04-01 criteria provided, single submitter clinical testing

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