Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179218 | SCV000231429 | uncertain significance | not provided | 2017-02-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000179218 | SCV000883766 | uncertain significance | not provided | 2017-12-28 | criteria provided, single submitter | clinical testing | The DYNC2H1 p.Ala3085Val variant (rs202071528) has not been reported in the medical literature, nor has it been previously identified in our laboratory. The p.Ala3085Val variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.72% in theAfrican population (identified in 172 out of 24,006 chromosomes), and is classified as a variant of uncertain significance in ClinVar (Variant ID: 198017). The alanine at codon 3085 is highly conserved considering 12 species up to baker’s yeast (Alamut software v2.10.0), and computational analyses predict that this variant does affect the structure/function of the DYNC2H1 protein (SIFT: damaging, PolyPhen2: probably damaging, MutationTaster: disease causing). However, based on the available information, the clinical significance of the p.Ala3085Val variant cannot be determined with certainty. |
Invitae | RCV002516790 | SCV001003561 | likely benign | Jeune thoracic dystrophy | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179218 | SCV001783515 | likely benign | not provided | 2020-08-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907625 | SCV004726963 | benign | DYNC2H1-related condition | 2020-04-27 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |