ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)

gnomAD frequency: 0.00001  dbSNP: rs377648976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001924391 SCV002207038 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-07-30 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: 1425265). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is present in population databases (rs377648976, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 372 of the FGFR1 protein (p.Pro372Ser).
Fulgent Genetics, Fulgent Genetics RCV002479455 SCV002783017 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-11-04 criteria provided, single submitter clinical testing

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