ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1649A>T (p.Gln550Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004058175 SCV002703457 uncertain significance Primary ciliary dyskinesia 2016-09-12 criteria provided, single submitter clinical testing The p.Q550L variant (also known as c.1649A>T), located in coding exon 15 of the OFD1 gene, results from an A to T substitution at nucleotide position 1649. The glutamine at codon 550 is replaced by leucine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003097055 SCV003195010 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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