ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu)

gnomAD frequency: 0.00014  dbSNP: rs761136963
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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 RCV000204720 SCV000261228 benign Primary ciliary dyskinesia 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000204720 SCV002698158 likely benign Primary ciliary dyskinesia 2016-06-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002494532 SCV002795219 likely benign Primary ciliary dyskinesia 13 2022-02-25 criteria provided, single submitter clinical testing

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