ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10664C>T (p.Ser3555Leu)

gnomAD frequency: 0.00001  dbSNP: rs369548008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001255248 SCV001431603 uncertain significance Primary ciliary dyskinesia 2019-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001879936 SCV002204803 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 3555 of the DNAH1 protein (p.Ser3555Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs369548008, ExAC 0.01%). This variant has not been reported in the literature in individuals with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 977544). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004035350 SCV003527201 uncertain significance not specified 2021-08-10 criteria provided, single submitter clinical testing The c.10664C>T (p.S3555L) alteration is located in exon 67 (coding exon 66) of the DNAH1 gene. This alteration results from a C to T substitution at nucleotide position 10664, causing the serine (S) at amino acid position 3555 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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