ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4315G>A (p.Ala1439Thr)

gnomAD frequency: 0.00004  dbSNP: rs768831672
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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 RCV002022590 SCV002287875 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1439 of the DNAH1 protein (p.Ala1439Thr). This variant is present in population databases (rs768831672, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1502952). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV004046057 SCV003657576 uncertain significance not specified 2022-11-08 criteria provided, single submitter clinical testing The c.4315G>A (p.A1439T) alteration is located in exon 26 (coding exon 25) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 4315, causing the alanine (A) at amino acid position 1439 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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