ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)

gnomAD frequency: 0.02227  dbSNP: rs138579182
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124479 SCV000167912 benign not specified 2013-01-09 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 RCV001507169 SCV000283504 benign Ehlers-Danlos syndrome, classic type, 1 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000124479 SCV000302245 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319752 SCV000478507 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588510 SCV000603172 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588510 SCV000695401 benign not provided 2017-03-10 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.574G>A (p.Asp192Asn) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 2009/119100 control chromosomes (28 homozygotes) at a frequency of 0.0168682, which is approximately 13495 times the estimated maximal expected allele frequency of a pathogenic COL5A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. To our knowledge, the variant of interest has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Ambry Genetics RCV002312848 SCV000738316 benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-05 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000226247 SCV000781254 likely benign Ehlers-Danlos syndrome, classic type 2016-11-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000226247 SCV000803510 benign Ehlers-Danlos syndrome, classic type 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Ehlers-Danlos syndrome, classic type, 1, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BP5 => Variant found in a case with an alternate molecular basis for disease. BA1 => Allele frequency is >1% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. Allele frequency is >4% in European (Finnish).
Genome-Nilou Lab RCV001507169 SCV002554049 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269919 SCV002554050 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277225 SCV002565783 benign Ehlers-Danlos syndrome 2022-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000588510 SCV005228020 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000124479 SCV001808529 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000124479 SCV001931239 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000124479 SCV001975725 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000124479 SCV002036268 benign not specified no assertion criteria provided clinical testing

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