ClinVar Miner

Submissions for variant NC_000005.9:g.(?_13729538)_(13771099_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378071 SCV001575555 likely pathogenic Primary ciliary dyskinesia 2020-06-27 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 56-69 of the DNAH5 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DNAH5-related conditions. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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