Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000056284 | SCV000291984 | pathogenic | Primary ciliary dyskinesia 23 | 2013-04-03 | criteria provided, single submitter | research | This homozygous mutation was predicted to be loss-of-function. |
Invitae | RCV000056284 | SCV000939496 | likely pathogenic | Primary ciliary dyskinesia 23 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with tryptophan at codon 927 of the ARMC4 protein (p.Leu927Trp). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and tryptophan. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with primary ciliary dyskinesia (PMID: 23849778). ClinVar contains an entry for this variant (Variation ID: 66045). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects ARMC4 function (PMID: 23849778). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
OMIM | RCV000056284 | SCV000087456 | pathogenic | Primary ciliary dyskinesia 23 | 2013-08-08 | no assertion criteria provided | literature only | |
Gene |
RCV000190922 | SCV000245808 | not provided | Kartagener syndrome | no assertion provided | literature only |