ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.714C>T (p.Ala238=)

gnomAD frequency: 0.00013  dbSNP: rs727503125
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150921 SCV000198550 likely benign not specified 2013-12-20 criteria provided, single submitter clinical testing Ala238Ala in exon 7 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Ala238Ala in exon 7 of LDB3 (allele frequency = n/a)
GeneDx RCV001719934 SCV000524612 likely benign not provided 2019-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000537866 SCV000638677 likely benign Myofibrillar myopathy 4 2024-11-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000150921 SCV001363755 benign not specified 2019-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362788 SCV002662326 likely benign Cardiovascular phenotype 2019-02-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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