ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5276T>C (p.Ile1759Thr) (rs1060501498)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475915 SCV000546561 likely pathogenic Beckwith-Wiedemann syndrome 2017-01-06 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides and inserts 6 from exon 15 of the NSD1 mRNA (c.5276_5281delinsCTGTCC). This leads to the deletion of 3 amino acid residues and the insertion of 3 amino acid residues in the NSD1 protein (p.Ile1759_Trp1761delinsThrValArg) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NSD1-related disease. This variant has been observed de novo in an affected individual with suspected Sotos syndrome (Invitae Database). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a novel in-frame change observed de novo in an affected individual, for these reasons it has been classified as likely pathogenic.

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