ClinVar Miner

Submissions for variant NC_000005.10:g.(?_177280545)_(177283948_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533918 SCV000623137 pathogenic Beckwith-Wiedemann syndrome 2017-06-29 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 18-20 of the NSD1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NSD1-related disease. Loss-of-function variants in NSD1 are known to be pathogenic (PMID:  12807965, 15942875, 17565729). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV003231632 SCV001583370 pathogenic Sotos syndrome 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18-20 of the NSD1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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 has not been reported in the literature in individuals affected with NSD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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