ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) (rs397517212)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038725 SCV000062403 uncertain significance not specified 2012-05-24 criteria provided, single submitter clinical testing The Asp47Asn variant in LDB3 has not been reported in the literature nor previou sly identified by our laboratory. This variant has not been identified in a very large and broad population by the NHLBI Exome Sequencing Project ( This low frequency is consistent with a disease causing ro le, but insufficient to establish this with confidence. Computational analyses ( biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Addition al information is needed to fully assess the clinical significance of the Asp47A sn variant.
Invitae RCV000811533 SCV000951801 uncertain significance Myofibrillar myopathy, ZASP-related 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 47 of the LDB3 protein (p.Asp47Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LDB3-related disease. ClinVar contains an entry for this variant (Variation ID: 45517). 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: "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.

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