ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs)

dbSNP: rs1553193977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549641 SCV000636907 pathogenic Hajdu-Cheney syndrome 2017-05-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in NOTCH2 are known to be pathogenic (PMID: 16773578, 22209762). This sequence change deletes 1 nucleotide from exon 30 of the NOTCH2 mRNA (c.5345delA), causing a frameshift at codon 1782. This creates a premature translational stop signal (p.Asp1782Alafs*38) and is expected to result in an absent or disrupted protein product.

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