ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys)

gnomAD frequency: 0.00004  dbSNP: rs769695221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265185 SCV000468178 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000265185 SCV002684401 uncertain significance Primary ciliary dyskinesia 2023-12-04 criteria provided, single submitter clinical testing The p.R3098C variant (also known as c.9292C>T), located in coding exon 56 of the DNAH11 gene, results from a C to T substitution at nucleotide position 9292. The arginine at codon 3098 is replaced by cysteine, an amino acid with highly 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 5907 samples (11814 alleles) with coverage at this position. This amino acid position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000265185 SCV003247338 benign Primary ciliary dyskinesia 2024-01-11 criteria provided, single submitter clinical testing

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