ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6500G>A (p.Cys2167Tyr) (rs587784205)

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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 RCV000146936 SCV000194265 likely pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001204294 SCV001375494 uncertain significance Beckwith-Wiedemann syndrome 2019-07-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 2167 of the NSD1 protein (p.Cys2167Tyr). The cysteine residue is highly 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 not been reported in the literature in individuals with NSD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 159427). 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 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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