ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4856G>A (p.Cys1619Tyr) (rs1554199411)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529239 SCV000623208 uncertain significance Beckwith-Wiedemann syndrome 2017-01-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 1619 of the NSD1 protein (p.Cys1619Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with Sotos syndrome (PMID: 16247291). Parents were not available for testing. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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