ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)

dbSNP: rs1481136060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003232237 SCV001387489 pathogenic Sotos syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg632*) 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 (ExAC no frequency). This premature translational stop signal has been observed in individuals with Sotos syndrome (PMID: 15742365, 27834868). For these reasons, this variant has been classified as Pathogenic.
DASA RCV003232237 SCV002107129 pathogenic Sotos syndrome 2022-03-05 criteria provided, single submitter clinical testing The c.1894C>T;p.(Arg632*) variant creates a premature translational stop signal in the NSD1 gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (PMID: 15742365; PMID: 27834868) - PS4. This variant is not present in population databases (- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The variant was assumed de novo, but without confirmation of paternity and maternity (PMID: 15742365) - PM6. In summary, the currently available evidence indicates that the variant is pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003232237 SCV003807990 pathogenic Sotos syndrome 2022-10-07 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 moderated, PM2 moderated, PM6 moderated

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