ClinVar Miner

Submissions for variant NM_017802.4(DNAAF5):c.190G>T (p.Ala64Ser)

gnomAD frequency: 0.00003  dbSNP: rs1353152566
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002408441 SCV002720554 uncertain significance Primary ciliary dyskinesia 2019-01-10 criteria provided, single submitter clinical testing The p.A64S variant (also known as c.190G>T), located in coding exon 1 of the DNAAF5 gene, results from a G to T substitution at nucleotide position 190. The alanine at codon 64 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly 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.

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