ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.8053G>C (p.Ala2685Pro)

gnomAD frequency: 0.00003  dbSNP: rs373111234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455963 SCV000538988 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Limited evidence for the gene to be associated with PCD. Does not meet criteria for reporting.
Ambry Genetics RCV002522748 SCV003560853 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.8053G>C (p.A2685P) alteration is located in exon 55 (coding exon 54) of the DNAH8 gene. This alteration results from a G to C substitution at nucleotide position 8053, causing the alanine (A) at amino acid position 2685 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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