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 RCV005089707 SCV003332196 pathogenic not provided 2022-03-26 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). 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.

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