ClinVar Miner

Submissions for variant NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs)

dbSNP: rs748900140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753403 SCV001988371 pathogenic not provided 2024-05-01 criteria provided, single submitter clinical testing Identified in a patient with HDAC4-related brachydactyly and neurodevelopmental spectrum disorder (PMID: 20691407); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20691407)
OMIM RCV000005373 SCV000025553 uncertain significance Chromosome 2q37 deletion syndrome 2014-07-01 no assertion criteria provided literature only

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