ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.2489A>C (p.Asp830Ala)

gnomAD frequency: 0.00029  dbSNP: rs376327672
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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 RCV000706883 SCV000835957 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-09 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 C25"). ClinVar contains an entry for this variant (Variation ID: 582738). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This variant is present in population databases (rs376327672, gnomAD 0.07%). This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 830 of the DNAH1 protein (p.Asp830Ala).
Ambry Genetics RCV004907656 SCV005578098 uncertain significance not specified 2024-07-07 criteria provided, single submitter clinical testing The c.2489A>C (p.D830A) alteration is located in exon 14 (coding exon 13) of the DNAH1 gene. This alteration results from a A to C substitution at nucleotide position 2489, causing the aspartic acid (D) at amino acid position 830 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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