ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.1641_1642del (p.Arg548fs)

dbSNP: rs1577484648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335889 SCV004046129 pathogenic Rauch-Steindl syndrome criteria provided, single submitter clinical testing This frameshifting variant in exon 9 of 24 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. Loss-of-function variation in NSD2 is an established mechanism of disease (PMID: 33276791). The c.1641_1642del (p.Arg548ThrfsTer16) variant is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.1641_1642del (p.Arg548ThrfsTer16) variant is classified as Pathogenic.

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