ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe)

dbSNP: rs757542755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002435228 SCV002748476 uncertain significance Primary ciliary dyskinesia 2022-06-12 criteria provided, single submitter clinical testing The p.L95F variant (also known as c.283C>T), located in coding exon 4 of the DNAH5 gene, results from a C to T substitution at nucleotide position 283. The leucine at codon 95 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004790211 SCV005411778 uncertain significance not provided 2024-03-20 criteria provided, single submitter clinical testing BP4
Fulgent Genetics, Fulgent Genetics RCV005032277 SCV005671063 uncertain significance Primary ciliary dyskinesia 3 2023-12-29 criteria provided, single submitter clinical testing

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