Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180413 | SCV000232840 | uncertain significance | not provided | 2015-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001243113 | SCV001416249 | uncertain significance | Jeune thoracic dystrophy | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 3916 of the DYNC2H1 protein (p.Gly3916Asp). This variant is present in population databases (rs201479015, gnomAD 0.06%). This missense change has been observed in individual(s) with short-rib polydactyly syndrome (PMID: 21211617). ClinVar contains an entry for this variant (Variation ID: 30350). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Blueprint Genetics | RCV000180413 | SCV001832481 | uncertain significance | not provided | 2019-12-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000023292 | SCV002049871 | uncertain significance | Asphyxiating thoracic dystrophy 3 | 2021-02-12 | criteria provided, single submitter | clinical testing | The DYNC2H1 c.11747G>A; p.Gly3916Asp variant (rs201479015) is reported in the literature in an individual who was affected with short-rib polydactyly syndrome; however a second variant was not identified (Thiel 2011). This variant is also reported in ClinVar (Variation ID: 30350) and the general population with an allele frequency of 0.019% (52/268,762 alleles) in the Genome Aggregation Database. The glycine at codon 3916 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.17). Due to limited information, the clinical significance of the p.Gly3916Asp variant is uncertain at this time. |
Gene |
RCV000180413 | SCV002578631 | uncertain significance | not provided | 2022-09-21 | criteria provided, single submitter | clinical testing | Observed with a NEK1 gene variant in a patient with SRP in published literature (Thiel et al., 2011); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21211617, 22795106, 29458881, 22482978, 34426522, 34582081) |
OMIM | RCV000023292 | SCV000044583 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2011-01-07 | no assertion criteria provided | literature only |