ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln) (rs368706736)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146817 SCV000194145 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402970 SCV000456499 uncertain significance Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312813 SCV000456500 uncertain significance Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000628530 SCV000749432 uncertain significance Beckwith-Wiedemann syndrome 2017-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1268 of the NSD1 protein (p.Arg1268Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs368706736, ExAC 0.005%). This variant has not been reported in the literature in individuals with NSD1-related disease. ClinVar contains an entry for this variant (Variation ID: 159314). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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