ClinVar Miner

Submissions for variant NM_172349.2(NSD1):c.1579_1582del (p.Glu527fs) (rs587784086)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146786 SCV000194112 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000598943 SCV000709827 pathogenic not provided 2017-12-18 criteria provided, single submitter clinical testing The c.2386_2389delGAAA pathogenic variant in the NSD1 gene has been reported previously in association with Sotos Syndrome (Kurotaki et al., 2003). The variant is not observed in large population cohorts (Lek et al., 2016). The deletion causes a frameshift starting with codon Glutamic acid 796, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Glu796IlefsX10. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay
Invitae RCV001043569 SCV001207320 pathogenic Beckwith-Wiedemann syndrome 2019-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu796Ilefs*10) in the NSD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with Sotos syndrome (PMID: 14517949). ClinVar contains an entry for this variant (Variation ID: 159287). 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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