Submissions for variant NM_001042545.2(LTBP4):c.135C>T (p.Cys45=)

gnomAD frequency: 0.00654  dbSNP: rs185400394

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213988	SCV000269238	benign	not specified	2015-08-06	criteria provided, single submitter	clinical testing	p.Cys45Cys in exon 1A of LTBP4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.7% (20/2846) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs185400394).
GeneDx	RCV000838341	SCV000980207	likely benign	not provided	2018-06-14	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.
CeGaT Center for Human Genetics Tuebingen	RCV000838341	SCV001747224	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LTBP4: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003917872	SCV004734574	benign	LTBP4-related condition	2019-10-31	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).