Submissions for variant NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)

gnomAD frequency: 0.00106  dbSNP: rs61736827

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724380	SCV000232909	uncertain significance	not provided	2015-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000225711	SCV000249785	benign	not specified	2014-09-03	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507203	SCV000283474	benign	Ehlers-Danlos syndrome, classic type, 1	2025-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382468	SCV000478528	uncertain significance	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000724380	SCV000603175	benign	not provided	2024-09-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314675	SCV000738569	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-26	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.
Illumina Laboratory Services, Illumina	RCV001000020	SCV001330479	benign	Ehlers-Danlos syndrome, classic type	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724380	SCV002546119	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	COL5A1: BP4, BP7
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277432	SCV002565674	likely benign	Ehlers-Danlos syndrome	2020-05-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000225711	SCV004121835	benign	not specified	2023-10-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000225711	SCV001808142	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724380	SCV001928796	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724380	SCV001974810	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955097	SCV004774669	likely benign	COL5A1-related disorder	2019-12-26	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).