ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)

dbSNP: rs587777047
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
GeneReviews RCV000190922 SCV000245808 not provided Kartagener syndrome no assertion provided literature only

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