Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313556 | SCV000848638 | uncertain significance | Inborn genetic diseases | 2016-12-29 | criteria provided, single submitter | clinical testing | The p.P4165L variant (also known as c.12494C>T), located in coding exon 69 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 12494. The proline at codon 4165 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV002289996 | SCV002578536 | uncertain significance | not provided | 2022-04-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093) |