ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5758T>A (rs1554204122)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660190 SCV000782186 likely pathogenic Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000660190 SCV001425399 likely pathogenic Sotos syndrome 1 2020-04-10 criteria provided, single submitter clinical testing This NSD1 variant is absent from a large population dataset. A single submitter in ClinVar classifies this variant as likely pathogenic. Three bioinformatic tools queried predict that this substitution would be damaging, and the cysteine residue at this position is evolutionarily conserved across all species assessed. As this variant is apparently de novo and consistent with this patient's clinical findings, we consider it to be likely pathogenic.

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