ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5786C>T (p.Ser1929Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004368816 SCV004856803 uncertain significance not specified 2024-01-22 criteria provided, single submitter clinical testing The c.5786C>T (p.S1929L) alteration is located in exon 37 (coding exon 36) of the DNAH1 gene. This alteration results from a C to T substitution at nucleotide position 5786, causing the serine (S) at amino acid position 1929 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005216197 SCV005856430 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-09-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1929 of the DNAH1 protein (p.Ser1929Leu). This variant is present in population databases (rs554663244, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DNAH1 protein function with a negative predictive value of 80%. 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.

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