ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe)

dbSNP: rs11793196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629513 SCV000750458 uncertain significance Primary ciliary dyskinesia 2021-09-07 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 335 of the DNAI1 protein (p.Val335Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs11793196, ExAC 0.002%). This missense change has been observed in individual(s) with clinical features of DNAI1-related conditions (PMID: 30868567). 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"). 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.
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995536 SCV001149761 likely pathogenic Kartagener syndrome 2018-07-19 criteria provided, single submitter clinical testing

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