Submissions for variant NM_022455.4(NSD1):c.1414C>T (p.Leu472Phe) (rs371775975)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 1

Download table as spreadsheet

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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.