Submissions for variant NM_022455.4(NSD1):c.1414C>T (p.Leu472Phe)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000811117	SCV000951367	uncertain significance	Beckwith-Wiedemann syndrome	2018-12-28	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with phenylalanine at codon 472 of the NSD1 protein (p.Leu472Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs371775975, ExAC 0.01%). This variant has been observed in an individual with Sotos syndrome, however that individual also carried another variant in the NSD1 gene (p.Cys1593Trp) (PMID: 25852445). 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: "Probably Damaging"; 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.

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