ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5304-1G>C (rs863224905)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697200 SCV000825797 pathogenic Beckwith-Wiedemann syndrome 2018-06-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 15 of the NSD1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Sotos syndrome (PMID: 12464997). The variant is also known as IVS15-1G>C in the literature,  Additionally, another variant with the same predicted effect on RNA splicing (c.5304-1G>T, also known as IVS15-1G>T in the literature) has been observed in an individual affected with Sotos syndrome (PMID: 14571271). ClinVar contains an entry for this variant (Variation ID: 216978). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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.
UCLA Clinical Genomics Center, UCLA RCV000196945 SCV000255431 likely pathogenic Sotos syndrome 1 2014-04-01 criteria provided, single submitter clinical testing

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