ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly)

gnomAD frequency: 0.00042  dbSNP: rs199789835
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321005 SCV000468162 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000321005 SCV000624178 likely benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000321005 SCV002679157 uncertain significance Primary ciliary dyskinesia 2021-10-25 criteria provided, single submitter clinical testing The p.S2841G variant (also known as c.8521A>G), located in coding exon 52 of the DNAH11 gene, results from an A to G substitution at nucleotide position 8521. The serine at codon 2841 is replaced by glycine, an amino acid with similar properties. This amino acid position is 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 RCV003114514 SCV003799879 uncertain significance Primary ciliary dyskinesia 7 2022-04-06 criteria provided, single submitter clinical testing The DNAH11 c.8521A>G; p.Ser2841Gly variant (rs199789835), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 359657). This variant is found in the Ashkenazi Jewish population with an allele frequency of 0.77% (62/8092 alleles) in the Genome Aggregation Database. The serine at codon 2841 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.229). Due to limited information, the clinical significance of the p.Ser2841Gly variant is uncertain at this time.
CeGaT Center for Human Genetics Tuebingen RCV003437125 SCV004163804 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing DNAH11: BP4

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