ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)

dbSNP: rs1336273625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003232202 SCV001231102 uncertain significance Sotos syndrome 2021-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln49*) in the NSD1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NSD1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV003232202 SCV002785315 uncertain significance Sotos syndrome 2021-09-08 criteria provided, single submitter clinical testing
GeneDx RCV003236864 SCV003935430 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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