ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu)

gnomAD frequency: 0.00001  dbSNP: rs376475480
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469872 SCV000551725 likely benign Primary ciliary dyskinesia 2023-12-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160315 SCV001322106 uncertain significance Primary ciliary dyskinesia 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV002056712 SCV002496261 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003168836 SCV003866871 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.6923C>T (p.P2308L) alteration is located in exon 42 (coding exon 42) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 6923, causing the proline (P) at amino acid position 2308 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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