ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6431del (p.Ala2144fs)

dbSNP: rs587784198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231318 SCV000194257 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231318 SCV003332196 pathogenic Sotos syndrome 2022-03-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2144Glufs*6) in the NSD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 553 amino acid(s) of the NSD1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NSD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 159420). This variant disrupts a region of the NSD1 protein in which other variant(s) (p.Cys2164Arg) have been determined to be pathogenic (PMID: 15942875; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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