ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5177C>G (p.Pro1726Arg) (rs1554201713)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554137 SCV000623210 pathogenic Beckwith-Wiedemann syndrome 2017-04-24 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 1726 of the NSD1 protein (p.Pro1726Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been found to occur de novo in an individual affected with Sotos syndrome and in an individual with developmental delay, hypothyroidism, Rathke's pouch cyst, posterior fossa cyst and hypertrichosis (PMID: 26690673, Invitae). 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"). For these reasons, this variant has been classified as Pathogenic.

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