ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)

gnomAD frequency: 0.00001  dbSNP: rs774768179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001345874 SCV001540021 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-07-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1041985). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is present in population databases (rs774768179, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 358 of the FGFR1 protein (p.Val358Ile). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002486407 SCV002779463 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2022-03-04 criteria provided, single submitter clinical testing

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