Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331861 | SCV001524002 | uncertain significance | Primary ciliary dyskinesia 7 | 2019-01-14 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001859287 | SCV002184143 | likely benign | Primary ciliary dyskinesia | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001859287 | SCV002622254 | uncertain significance | Primary ciliary dyskinesia | 2014-09-12 | criteria provided, single submitter | clinical testing | The p.R3852L variant (also known as c.11555G>T), located in coding exon 71 of the DNAH11 gene, results from a G to T substitution at nucleotide position 11555. The arginine at codon 3852 is replaced by leucine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5978 samples (11956 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging but tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Ambry Genetics | RCV002546514 | SCV003730766 | uncertain significance | Inborn genetic diseases | 2022-03-11 | criteria provided, single submitter | clinical testing | The c.11534G>T (p.R3845L) alteration is located in exon 71 (coding exon 71) of the DNAH11 gene. This alteration results from a G to T substitution at nucleotide position 11534, causing the arginine (R) at amino acid position 3845 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |