ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu)

gnomAD frequency: 0.00013  dbSNP: rs200099996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476334 SCV001680542 likely benign Primary ciliary dyskinesia 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001476334 SCV002614385 uncertain significance Primary ciliary dyskinesia 2018-05-29 criteria provided, single submitter clinical testing The p.F1138L variant (also known as c.3412T>C), located in coding exon 17 of the DNAH11 gene, results from a T to C substitution at nucleotide position 3412. The phenylalanine at codon 1138 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232346 SCV005879945 uncertain significance Primary ciliary dyskinesia 7 2024-11-16 criteria provided, single submitter clinical testing The DNAH11 c.3412T>C; p.Phe1138Leu variant (rs200099996), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1139598). This variant is found in the general population with an overall allele frequency of 0.01% (27/263,794 alleles, including one homozygote) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.161). Due to limited information, the clinical significance of this variant is uncertain at this time.

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