Total submissions: 4
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 |
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- |
RCV003231367 | SCV002054957 | pathogenic | Sotos syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Gene |
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) |