ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)

gnomAD frequency: 0.00012  dbSNP: rs763198301
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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 RCV000629297 SCV000750232 benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765815 SCV000897205 uncertain significance Primary ciliary dyskinesia 3 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629297 SCV002681549 uncertain significance Primary ciliary dyskinesia 2022-02-20 criteria provided, single submitter clinical testing The p.S2838R variant (also known as c.8512A>C), located in coding exon 51 of the DNAH5 gene, results from an A to C substitution at nucleotide position 8512. The serine at codon 2838 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000629297 SCV001452475 uncertain significance Primary ciliary dyskinesia 2020-04-18 no assertion criteria provided clinical testing

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