ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.955G>A (p.Ala319Thr) (rs151219713)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183530 SCV000235997 uncertain significance not provided 2012-09-04 criteria provided, single submitter clinical testing p.Ala319Thr (GCT>ACT): c.955 G>A in exon 7 of the LDB3 gene (NM_007078.2). The Ala319Thr variant in the LDB3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ala319Thr results in a non-conservative amino acid substitution of non-polar Alanine residue with a polar Threonine residue at a position that is conserved until rat. However, no mutations have been reported in this region of the LDB3 gene, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Ala319Thr is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s).
Ambry Genetics RCV000618440 SCV000736485 uncertain significance Cardiovascular phenotype 2015-06-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)

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