ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.164+5G>A

dbSNP: rs398122888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV003415747 SCV004108323 pathogenic HDAC8-related condition 2023-07-02 criteria provided, single submitter clinical testing The HDAC8 c.164+5G>A variant is predicted to interfere with splicing. This variant was reported in the hemizygous state in seven males from a single family with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and craniofacial deformities. Carrier females were more mildly affected and exhibited skewed X-inactivation. RNA studies in patient lymphocytes showed this variant resulted in skipping of exon 2 and premature termination (Harakalova. 2012. PubMed ID: 22889856). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in HDAC8 are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000030813 SCV000053484 pathogenic Cornelia de Lange syndrome 5 2012-08-01 no assertion criteria provided literature only

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