Submissions for variant NM_000302.4(PLOD1):c.411G>A (p.Arg137=)

gnomAD frequency: 0.00019  dbSNP: rs151122664

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000874976	SCV001017237	likely benign	Ehlers-Danlos syndrome, kyphoscoliotic type 1	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002320043	SCV002628446	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-04-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580106	SCV001809700	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580106	SCV001974410	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908312	SCV004725865	likely benign	PLOD1-related disorder	2019-08-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).