ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.7601C>T (p.Ala2534Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003081301 SCV003456898 benign Primary ciliary dyskinesia 2024-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003081301 SCV005573151 uncertain significance Primary ciliary dyskinesia 2024-07-24 criteria provided, single submitter clinical testing The p.A2534V variant (also known as c.7601C>T), located in coding exon 45 of the DNAH5 gene, results from a C to T substitution at nucleotide position 7601. The alanine at codon 2534 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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