ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5474dup (p.Met1826fs)

dbSNP: rs1757806263
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research RCV003232273 SCV001432698 likely pathogenic Sotos syndrome 2020-03-20 criteria provided, single submitter clinical testing The clinical significance was assigned and evaluated based on the ACMG guidelines for Variant Classification (Richards et al, 2015). This variant is absent in population databases (PM2); is a protein length changing variant (PM4); the patient's phenotype was highly specific for this gene (PP4) and multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).

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