ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5149G>C (p.Gly1717Arg) (rs1562278357)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694733 SCV000823191 likely pathogenic Beckwith-Wiedemann syndrome 2018-08-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1717 of the NSD1 protein (p.Gly1717Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Sotos syndrome (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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