ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6086C>T (p.Thr2029Ile) (rs587784181)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146910 SCV000194239 likely pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001064563 SCV001229473 likely pathogenic Beckwith-Wiedemann syndrome 2019-04-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 2029 of the NSD1 protein (p.Thr2029Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of Sotos syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 159402). 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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