ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1135A>G (p.Asn379Asp)

gnomAD frequency: 0.00008  dbSNP: rs372166382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248023 SCV001421482 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 379 of the DNAH1 protein (p.Asn379Asp). This variant is present in population databases (rs372166382, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 972078). 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.
Fulgent Genetics, Fulgent Genetics RCV001248023 SCV002776071 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034914 SCV004855540 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The c.1135A>G (p.N379D) alteration is located in exon 8 (coding exon 7) of the DNAH1 gene. This alteration results from a A to G substitution at nucleotide position 1135, causing the asparagine (N) at amino acid position 379 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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