ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2465C>G (p.Ser822Cys) (rs377684553)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719731 SCV000850601 likely benign History of neurodevelopmental disorder 2018-01-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Genetic Services Laboratory, University of Chicago RCV000501442 SCV000596105 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000802544 SCV000942381 uncertain significance Beckwith-Wiedemann syndrome 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 822 of the NSD1 protein (p.Ser822Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs377684553, ExAC 0.02%). This variant has been observed in an individual affected with autism and macroecephaly; this variant was inherited from an unaffected mother and present in an unaffected sibling (PMID: 18001468). ClinVar contains an entry for this variant (Variation ID: 436060). 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: "Tolerated"; PolyPhen-2: "Possibly 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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