ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)

dbSNP: rs797045057
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003231367 SCV000245515 pathogenic Sotos syndrome 2014-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory de novo in an 18-year-old male with intellectual disability, spasticity, seizures, dysmorphic features, syndactyly, onset of an inflammatory syndrome at 17 years
Labcorp Genetics (formerly Invitae), Labcorp RCV003441773 SCV001396389 pathogenic not provided 2024-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1984*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Sotos syndrome (PMID: 15742365, 15942875, 25852445). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 209175). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003231367 SCV002054957 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV003441773 SCV004168035 pathogenic not provided 2023-09-28 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17565729, 26633545, 30921091, 15942875, 25852445, 15742365, 28475857)

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