ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) (rs147266928)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424654 SCV000517108 likely benign not specified 2017-10-20 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 RCV001085772 SCV000627263 benign Osteogenesis imperfecta type I 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659364 SCV000781175 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757100 SCV000885214 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing The p.Asn1394Ser variant was reported in a patient presented with EDS/OI overlap, who inherited this variant from an unaffected mother. Since then, this variant has been classified as benign by Collagen Diagnostic Laboratory in a test comparison with outside laboratories (Pepin 2014). This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.08 percent (identified on 224 out of 276,988 chromosomes, including 2 homozygotes) and has been reported to the ClinVar database with a benign/likely benign classification (Variation ID: 379751). Given the current evidence, the p.Asn1394Ser is considered to be likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001123187 SCV001281997 likely benign Infantile cortical hyperostosis 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.
Illumina Clinical Services Laboratory,Illumina RCV001123188 SCV001281998 benign Osteogenesis imperfecta 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001127266 SCV001286558 benign Ehlers-Danlos syndrome, procollagen proteinase deficient 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.