ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2079C>G (p.Asn693Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795670 SCV000935139 uncertain significance Beckwith-Wiedemann syndrome 2018-08-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 693 of the NSD1 protein (p.Asn693Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs766184697, ExAC 0.001%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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