ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4231G>A (p.Asp1411Asn)

gnomAD frequency: 0.00002  dbSNP: rs373438684
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822344 SCV000963144 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2020-05-21 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 664278). This variant is present in population databases (rs373438684, ExAC 0.003%). This sequence change replaces aspartic acid with asparagine at codon 1411 of the DNAH1 protein (p.Asp1411Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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