ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs)

dbSNP: rs878854445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226138 SCV000287019 pathogenic Primary ciliary dyskinesia 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2382Serfs*9) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). This variant is present in population databases (rs768452027, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 238930). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000226138 SCV002665497 pathogenic Primary ciliary dyskinesia 2019-05-09 criteria provided, single submitter clinical testing The c.7140_7141delAT variant, located in coding exon 44 of the DNAH11 gene, results from a deletion of two nucleotides at nucleotide positions 7140 to 7141, causing a translational frameshift with a predicted alternate stop codon (p.V2382Sfs*9). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
PreventionGenetics, part of Exact Sciences RCV003907863 SCV004719306 likely pathogenic DNAH11-related condition 2024-01-12 criteria provided, single submitter clinical testing The DNAH11 c.7140_7141delAT variant is predicted to result in a frameshift and premature protein termination (p.Val2382Serfs*9). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.030% of alleles in individuals of African descent in gnomAD. Frameshift variants in DNAH11 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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