ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) (rs143764931)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767126 SCV000236007 uncertain significance not provided 2018-08-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LDB3 gene. The A537P variant has been reported previously in association with HCM (Lopes et al., 2015); however, no specific clinical details were provided. A537P has been observed in 80/126086 (0.06%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). The A537P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.
Invitae RCV001079637 SCV000261974 likely benign Myofibrillar myopathy, ZASP-related 2020-11-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000183539 SCV000271909 likely benign not specified 2020-01-08 criteria provided, single submitter clinical testing The p.Ala532Pro variant in LDB3 is classified as likely benign because it has been identified in 0.07% (85/128298) of European chromosomes by gnomAD (; dbSNP rs143764931). In addition, alanine (Ala) at position 532 is not conserved in evolution and proline (Pro) is present at this position in >10 bird and reptile species. ACMG/AMP Criteria applied: BS1.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769289 SCV000900667 uncertain significance Cardiomyopathy 2017-05-08 criteria provided, single submitter clinical testing

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