ClinVar Miner

Submissions for variant NC_000005.10:g.(?_177135094)_(177295469_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807926 SCV000948006 pathogenic Beckwith-Wiedemann syndrome 2018-09-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NSD1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions encompassing the entire NSD1 gene have been reported in many individuals affected with Sotos syndrome (PMID: 18505455, 21597970, 25608832). Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003232114 SCV001583368 pathogenic Sotos syndrome 2020-09-10 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NSD1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions encompassing the entire NSD1 gene have been reported in many individuals affected with Sotos syndrome (PMID: 18505455, 21597970, 25608832). Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic.

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