ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.1589del (p.Lys530fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CGC Genetics, Unilabs RCV004549039 SCV005043273 likely pathogenic Syndromic intellectual disability 2024-04-30 no assertion criteria provided clinical testing The variant NM_133330.3:c.1589del p.(Lys530Argfs*68), detected in heterozygosity in the NSD2 gene, has not been described in the literature nor in gnomAD at the time of this submission. It is a frameshift variant, located in exon 9 (of 24), which introduces a premature stop codon, which is predicted to lead to the creation of a truncated protein and/or a reduction in its expression due to mRNA degradation. In addition, another frameshift variant with a nearby premature stop codon is reported in ClinVar as pathogenic (ClinVar ID: 1333176). With the information currently available and current recommendations, this variant should be classified as a probably pathogenic variant. ACMG codes: PVS1; PM2_supp.

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