ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3345_3348del (p.Lys1115fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005234271 SCV005878986 pathogenic Sotos syndrome 2024-04-19 criteria provided, single submitter clinical testing The NSD1 c.3345_3348del; p.Lys1115AsnfsTer25 variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant causes a frameshift by deleting four nucleotides in exon 5 of 23, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Loss-of-function variants in the NSD1 gene, including those located in exon 5, are a known mechanism of disease (see Tatton-Brown 2005). Based on available information, this variant is considered to be pathogenic. References: Tatton-Brown K et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204. PMID: 15942875.

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