ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) (rs397517211)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038724 SCV000062402 uncertain significance not specified 2010-06-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic.
Invitae RCV000811808 SCV000952095 uncertain significance Myofibrillar myopathy, ZASP-related 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 1339 of the LDB3 protein (p.Pro447Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. The LDB3 gene has multiple clinically relevant transcripts. The p.Pro447Ala variant occurs in alternate transcript NM_007078.2, which corresponds to position c.*17060C>G in NM_001080116.1, the primary transcript listed in the Methods. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with LDB3-related disease. ClinVar contains an entry for this variant (Variation ID: 45516). 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: "Tolerated"; PolyPhen-2: "Probably 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.