ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062261 SCV001227048 likely pathogenic Beckwith-Wiedemann syndrome 2020-01-02 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 2164 of the NSD1 protein (p.Cys2164Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Sotos syndrome (PMID: 15942875, Invitae). In at least one individual the variant was observed to be de novo. 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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