Submissions for variant NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)

gnomAD frequency: 0.00668  dbSNP: rs2230896

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310879	SCV000319369	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-11	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.
Illumina Laboratory Services, Illumina	RCV000344429	SCV000347860	likely benign	Ehlers-Danlos syndrome, kyphoscoliotic type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000344429	SCV000631686	benign	Ehlers-Danlos syndrome, kyphoscoliotic type 1	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000614003	SCV000719743	benign	not specified	2017-08-15	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000344429	SCV001158780	benign	Ehlers-Danlos syndrome, kyphoscoliotic type 1	2023-10-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278229	SCV002566003	benign	Ehlers-Danlos syndrome	2021-12-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000614003	SCV004038886	likely benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000614003	SCV002035183	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795470	SCV002035354	likely benign	not provided		no assertion criteria provided	clinical testing