Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
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 |