ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4309A>G (p.Thr1437Ala)

gnomAD frequency: 0.00001  dbSNP: rs1334897226
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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 RCV000799934 SCV000939623 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1437 of the DNAH1 protein (p.Thr1437Ala). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of DNAH1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 645780). 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.

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