ClinVar Miner

Submissions for variant NM_001010892.3(RSPH4A):c.1662+2_1662+5del (rs768986129)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539808 SCV000623957 pathogenic Primary ciliary dyskinesia 2017-12-19 criteria provided, single submitter clinical testing This sequence change affects the donor splice site in intron 3 of the RSPH4A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs768986129, ExAC 0.005%). This variant is homozygous or compound heterozygous with a pathogenic variant in individuals with primary ciliary dyskinesia (PMID: 22448264, 23798057, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RSPH4A are known to be pathogenic (PMID: 19200523). For these reasons, this variant has been classified as Pathogenic.
GenomeConnect, ClinGen RCV000509334 SCV000607260 not provided Ciliary dyskinesia, primary, 11 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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