Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001657966 | SCV001873979 | likely pathogenic | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | Observed with a second variant in the HIBCH gene on the opposite allele (in trans) in a patient with developmental delay, hypotonia, and cerebral atrophy in the published literature (Peters et al., 2015); 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 a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26163321) |
OMIM | RCV000190537 | SCV000245424 | pathogenic | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2015-08-01 | no assertion criteria provided | literature only |