ClinVar Miner

Submissions for variant NM_002501.4(NFIX):c.143T>C (p.Met48Thr) (rs1555696484)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808961 SCV000949095 uncertain significance Marshall-Smith syndrome; Sotos syndrome 2 2018-07-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 56 of the NFIX protein (p.Met56Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NFIX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not available"; Align-GVGD: "Class C0"). 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527641 SCV001738753 likely pathogenic Sotos syndrome 2 2020-01-01 no assertion criteria provided clinical testing

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