ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3546_3547CT[1] (p.Asn1182_Ser1183insTer) (rs886039578)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254944 SCV000322458 pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The S1183X variant in the NSD1 gene has been reported previously as a pathogenic variant in a patient with a clinical diagnosis of Sotos syndrome (Duno et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S1183X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret S1183X as a pathogenic variant.

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