ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln)

dbSNP: rs113742238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531192 SCV000624311 benign Primary ciliary dyskinesia 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000531192 SCV002687607 uncertain significance Primary ciliary dyskinesia 2015-09-03 criteria provided, single submitter clinical testing The p.R3077Q variant (also known as c.9230G>A), located in coding exon 55 of the DNAH5 gene, results from a G to A substitution at nucleotide position 9230. The arginine at codon 3077 is replaced by glutamine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs113742238. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.03% (4/13006) total alleles studied, having been observed in 0.07% (3/4406) African American alleles and 0.01% (1/8600) European American alleles. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004691841 SCV005189420 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000531192 SCV001452464 uncertain significance Primary ciliary dyskinesia 2019-10-28 no assertion criteria provided clinical testing

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