Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039887 | SCV001203437 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569151 | SCV001793160 | likely benign | not provided | 2018-06-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372766 | SCV002671867 | uncertain significance | Inborn genetic diseases | 2021-11-07 | criteria provided, single submitter | clinical testing | The p.A2409T variant (also known as c.7225G>A), located in coding exon 35 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 7225. The alanine at codon 2409 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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. |
Prevention |
RCV003396639 | SCV004118844 | uncertain significance | DYNC1H1-related condition | 2022-10-19 | criteria provided, single submitter | clinical testing | The DYNC1H1 c.7225G>A variant is predicted to result in the amino acid substitution p.Ala2409Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-102482751-G-C). This variant is classified as likely benign/uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/220931/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |