ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.2339G>A (p.Arg780Gln)

gnomAD frequency: 0.00002  dbSNP: rs763577633
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334864 SCV001527843 uncertain significance Spermatogenic failure 18 2018-03-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035785 SCV003527559 uncertain significance not specified 2022-09-29 criteria provided, single submitter clinical testing The c.2339G>A (p.R780Q) alteration is located in exon 14 (coding exon 13) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 2339, causing the arginine (R) at amino acid position 780 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003458671 SCV004183433 uncertain significance Ciliary dyskinesia, primary, 37 2023-11-15 criteria provided, single submitter clinical testing

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