Submissions for variant NM_022455.4(NSD1):c.7531G>C (p.Asp2511His) (rs575229932)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc	RCV000660196	SCV000782194	uncertain significance	Sotos syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000685447	SCV000812929	uncertain significance	Beckwith-Wiedemann syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with histidine at codon 2511 of the NSD1 protein (p.Asp2511His). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs575229932, ExAC 0.009%). This variant has not been reported in the literature in individuals with NSD1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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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