ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.11436G>T (p.Met3812Ile)

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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 RCV002917515 SCV003247579 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 3812 of the DNAH1 protein (p.Met3812Ile). This variant is present in population databases (rs528400726, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. 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. 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 RCV004066076 SCV003699617 uncertain significance not specified 2024-11-10 criteria provided, single submitter clinical testing The c.11436G>T (p.M3812I) alteration is located in exon 72 (coding exon 71) of the DNAH1 gene. This alteration results from a G to T substitution at nucleotide position 11436, causing the methionine (M) at amino acid position 3812 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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