ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4540G>A (p.Val1514Met)

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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 RCV002966455 SCV003281065 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-07-28 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This variant is present in population databases (rs781347169, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1514 of the DNAH1 protein (p.Val1514Met).
Ambry Genetics RCV004068133 SCV004856792 uncertain significance not specified 2024-10-08 criteria provided, single submitter clinical testing The c.4540G>A (p.V1514M) alteration is located in exon 27 (coding exon 26) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 4540, causing the valine (V) at amino acid position 1514 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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