ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) (rs72658814)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559527 SCV000624090 uncertain significance Primary ciliary dyskinesia 2019-11-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 3935 of the DNAH11 protein (p.Pro3935Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs72658814, ExAC 0.2%). This variant has been observed in individual(s) with primary ciliary dyskinesia (PMID: 22184204). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 454644). 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.
Baylor Genetics RCV001335803 SCV001529040 uncertain significance Ciliary dyskinesia, primary, 7 2018-11-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001547987 SCV001767825 uncertain significance not provided 2020-01-12 criteria provided, single submitter clinical testing In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; This variant is associated with the following publications: (PMID: 22184204)
MAGI's Lab - Research,MAGI Group RCV001283744 SCV001432687 uncertain significance Male infertility no assertion criteria provided provider interpretation

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