ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2428C>A (p.His810Asn)

dbSNP: rs759376422
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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 RCV001216941 SCV001388763 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-08-15 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: 946143). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is present in population databases (rs759376422, gnomAD 0.006%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 810 of the FGFR1 protein (p.His810Asn).

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