ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) (rs777547764)

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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 RCV000219802 SCV000271908 uncertain significance not specified 2015-10-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser385Gly var iant in LDB3 has not been previously reported in individuals with cardiomyopathy , but has been identified in 1/63978 European chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org). Serine (Ser) at position 3 85 is not conserved in mammals or evolutionarily distant species and 9 species, including 3 mammals (Elephant, Elephant Shrew, Cape Golden Mole) carry a glycine (Gly) at this position, raising the possibility that this change may be tolerat ed. In summary, while the clinical significance of the p.Ser385Gly variant is un certain, these data suggest that it is more likely to be benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000219802 SCV000740597 uncertain significance not specified 2017-03-31 criteria provided, single submitter clinical testing

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