ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)

gnomAD frequency: 0.00013  dbSNP: rs199667661
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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 RCV000462683 SCV000546310 likely benign Primary ciliary dyskinesia 2024-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000462683 SCV003708954 uncertain significance Primary ciliary dyskinesia 2021-09-16 criteria provided, single submitter clinical testing The c.2571G>A (p.M857I) alteration is located in exon 17 (coding exon 17) of the DNAH5 gene. This alteration results from a G to A substitution at nucleotide position 2571, causing the methionine (M) at amino acid position 857 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000462683 SCV002081779 uncertain significance Primary ciliary dyskinesia 2020-03-15 no assertion criteria provided clinical testing

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