ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)

gnomAD frequency: 0.00465  dbSNP: rs1800217
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178543 SCV000230642 benign not specified 2014-12-04 criteria provided, single submitter clinical testing
Invitae RCV000553105 SCV000627230 benign Osteogenesis imperfecta type I 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000178543 SCV000729106 benign not specified 2017-01-26 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659358 SCV000781169 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127484 SCV001286799 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001127485 SCV001286800 benign Ehlers-Danlos syndrome, arthrochalasia type 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001127486 SCV001286801 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics RCV000178543 SCV001476963 benign not specified 2020-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001127484 SCV002564723 benign Osteogenesis imperfecta 2022-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277405 SCV002565514 benign Ehlers-Danlos syndrome 2022-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444713 SCV002611803 benign Cardiovascular phenotype 2019-01-23 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.
Fulgent Genetics, Fulgent Genetics RCV002503689 SCV002807144 benign Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2021-08-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114328 SCV003800307 benign not provided 2023-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003114328 SCV003917944 benign not provided 2023-08-01 criteria provided, single submitter clinical testing COL1A1: BP4, BP7, BS1, BS2

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