Submissions for variant NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)

gnomAD frequency: 0.00003  dbSNP: rs554232128

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001574058	SCV000725859	benign	not provided	2020-08-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315930	SCV000739518	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-05-25	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.
Invitae	RCV000877394	SCV001020126	benign	Ehlers-Danlos syndrome, kyphoscoliotic type 1	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000877394	SCV001253492	benign	Ehlers-Danlos syndrome, kyphoscoliotic type 1	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279425	SCV002566028	benign	Ehlers-Danlos syndrome	2019-06-01	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001574058	SCV001800794	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001574058	SCV001808228	likely benign	not provided		no assertion criteria provided	clinical testing