ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5290T>C (p.Ser1764Pro) (rs748763552)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234185 SCV000287087 pathogenic Primary ciliary dyskinesia 2019-08-22 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 1764 of the DNAH5 protein (p.Ser1764Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs748763552, ExAC 0.009%). This variant occurs with pathogenic variants in DNAH5 in 3 individuals with clinical features of primary ciliary dyskinesia (Invitae). While it is unknown if the two variants are on the same or opposite chromosomes in these individuals, these observations suggest the c.5290T>C substitution may contribute to the cause of disease. ClinVar contains an entry for this variant (Variation ID: 238980). 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: Possibly Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

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