Submissions for variant NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala)

gnomAD frequency: 0.47295  dbSNP: rs1131620

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151001	SCV000198694	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Thr787Ala in exon 17 of LTBP4: This variant is not expected to have clinical sig nificance because it has been identified in 43.7% (1840/4214) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs1131620).
Illumina Laboratory Services, Illumina	RCV000208692	SCV000413287	benign	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000151001	SCV000525626	benign	not specified	2016-09-29	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.
Genome-Nilou Lab	RCV000208692	SCV002014064	benign	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055980	SCV002403209	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002055980	SCV005306838	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000208692	SCV000733890	benign	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000208692	SCV000745897	benign	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	2014-12-01	no assertion criteria provided	clinical testing