ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser) (rs397517214)

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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 RCV000038728 SCV000062406 uncertain significance not specified 2014-05-09 criteria provided, single submitter clinical testing The Ala485Ser variant in LDB3 has been identified by our laboratory in 2 Caucasi an adults with DCM and was absent from large population studies. Computational p rediction tools and conservation analysis do not provide strong support for or a gainst an impact to the protein. In summary, the clinical significance of the Va l30899Gly variant is uncertain.
Invitae RCV000794637 SCV000934058 uncertain significance Myofibrillar myopathy, ZASP-related 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 485 of the LDB3 protein (p.Ala485Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. The LDB3 gene has multiple clinically relevant transcripts. The p.Ala485Ser variant occurs in alternate transcript NM_007078.2, which corresponds to c.*17174G>T in NM_001080116.1, the primary transcript listed in the Methods. 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: 45519). 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: "Not Available"; Align-GVGD: "Class C65"). 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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