ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)

dbSNP: rs1057520339
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436276 SCV000513987 pathogenic not provided 2022-12-14 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 23190751, 15942875, 22924495, 17565729, 29304373, 34013836, 32677741)
Baylor Genetics RCV001336054 SCV001529339 pathogenic Acute myeloid leukemia 2018-03-20 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with Sotos syndrome [PMID 15942875]
Labcorp Genetics (formerly Invitae), Labcorp RCV000436276 SCV001590380 pathogenic not provided 2023-07-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 378304). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Sotos syndrome (PMID: 15942875, 17565729, 23190751). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg788*) in the NSD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291).
Genome-Nilou Lab RCV003231474 SCV002054916 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003231474 SCV002805676 pathogenic Sotos syndrome 2021-09-05 criteria provided, single submitter clinical testing

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