ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)

gnomAD frequency: 0.00253  dbSNP: rs41310953
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124457 SCV000167890 benign not specified 2013-07-23 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.
Invitae RCV001507125 SCV000261648 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000124457 SCV000302220 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311390 SCV000478578 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312840 SCV000738390 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-06-21 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680509 SCV000807894 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000124457 SCV000856003 likely benign not specified 2017-08-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000204098 SCV001155828 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing COL5A1: BP4, BP7, BS1
Illumina Laboratory Services, Illumina RCV001082267 SCV001331475 benign Ehlers-Danlos syndrome, classic type 2018-01-13 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-Nilou Lab RCV001507125 SCV002554629 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269900 SCV002554630 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277211 SCV002565752 likely benign Ehlers-Danlos syndrome 2022-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505081 SCV002813737 likely benign Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-07-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000204098 SCV003800044 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124457 SCV004029517 benign not specified 2023-07-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000204098 SCV001809027 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000204098 SCV001929809 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000204098 SCV001973557 likely benign not provided no assertion criteria provided clinical testing

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