ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys)

gnomAD frequency: 0.00004  dbSNP: rs143673459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536018 SCV000624240 benign Primary ciliary dyskinesia 2024-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000536018 SCV002749980 uncertain significance Primary ciliary dyskinesia 2023-10-31 criteria provided, single submitter clinical testing The p.R982C variant (also known as c.2944C>T), located in coding exon 19 of the DNAH5 gene, results from a C to T substitution at nucleotide position 2944. The arginine at codon 982 is replaced by cysteine, an amino acid with highly dissimilar properties. 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 alteration remains unclear.
Natera, Inc. RCV000536018 SCV002081768 uncertain significance Primary ciliary dyskinesia 2021-01-05 no assertion criteria provided clinical testing

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