ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp) (rs374426474)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183540 SCV000236008 uncertain significance not provided 2018-11-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in an alternate transcript of the the LDB3 gene. Although the R552W variant has not been published as pathogenic or been reported as benign to our knowledge, the R547W variant in the (NM_007078.2) transcript of the LDB3 gene has been identified in one individual referred for cardiomyopathy genetic testing at GeneDx and has been classified as a variant of uncertain significance by another clinical laboratory in ClinVar (SCV000736286.2; Landrum et al., 2016). The R552W variant is observed in 3/30,680 alleles (0.01%) from individuals of South Asian ancestry in large population cohorts (Lek et al., 2016). The R552W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Ambry Genetics RCV000620630 SCV000736286 uncertain significance Cardiovascular phenotype 2016-08-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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