ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5258A>G (p.Asp1753Gly)

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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 RCV002340974 SCV002643334 uncertain significance Primary ciliary dyskinesia 2016-05-02 criteria provided, single submitter clinical testing The p.D1753G variant (also known as c.5258A>G), located in coding exon 30 of the DNAH11 gene, results from an A to G substitution at nucleotide position 5258. The aspartic acid at codon 1753 is replaced by glycine, an amino acid with similar 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 5945 samples (11890 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002340974 SCV004279806 benign Primary ciliary dyskinesia 2023-07-14 criteria provided, single submitter clinical testing

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