Submissions for variant NM_007078.3(LDB3):c.295C>T (p.Pro99Ser)

gnomAD frequency: 0.00088  dbSNP: rs201693259

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154746	SCV000204426	benign	not specified	2014-12-31	criteria provided, single submitter	clinical testing	p.Pro99Ser in exon 3 of LDB3: This variant is not expected to have clinical sign ificance because it has been identified in 1% (65/6686) of European (Finnish) ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs201693259). Moreover, Proline (Pro) at position 99 is not conserved in evolution and 1 mammal (cape golden mole) carries a Serine (Ser) at this pos ition, supporting that this change may be tolerated.
GeneDx	RCV000154746	SCV000528518	likely benign	not specified	2016-06-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001512394	SCV001719805	benign	Myofibrillar myopathy 4	2023-12-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433677	SCV002751518	benign	Cardiovascular phenotype	2022-01-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.