ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)

dbSNP: rs148696723
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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 RCV000206124 SCV000259649 likely benign Primary ciliary dyskinesia 2024-10-22 criteria provided, single submitter clinical testing
Counsyl RCV000669663 SCV000794439 uncertain significance Primary ciliary dyskinesia 3 2017-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000206124 SCV002663090 uncertain significance Primary ciliary dyskinesia 2020-03-09 criteria provided, single submitter clinical testing The p.R4127C variant (also known as c.12379C>T), located in coding exon 72 of the DNAH5 gene, results from a C to T substitution at nucleotide position 12379. The arginine at codon 4127 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000206124 SCV001462292 uncertain significance Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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