ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu)

gnomAD frequency: 0.00004  dbSNP: rs749078502
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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 RCV000477129 SCV000546335 likely benign Primary ciliary dyskinesia 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000477129 SCV002645936 uncertain significance Primary ciliary dyskinesia 2015-06-10 criteria provided, single submitter clinical testing The p.S169L variant (also known as c.506C>T), located in coding exon 5 of the DNAH5 gene, results from a C to T substitution at nucleotide position 506. The serine at codon 169 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 6503 samples (13006 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000477129 SCV002081824 uncertain significance Primary ciliary dyskinesia 2021-01-20 no assertion criteria provided clinical testing

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