Submissions for variant NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)

gnomAD frequency: 0.00331  dbSNP: rs72667032

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203035	SCV000257624	benign	not specified	2015-06-19	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224220	SCV000280785	likely benign	not provided	2015-09-29	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000203035	SCV000332644	benign	not specified	2015-07-15	criteria provided, single submitter	clinical testing
GenePathDx, GenePath diagnostics	RCV000487429	SCV000574530	uncertain significance	Osteogenesis imperfecta	2016-06-01	criteria provided, single submitter	clinical testing	7 years old male child, a suspected case of osteogenesis imperfecta. History of recurrent long bone fractures after trivial falls. Sclera and dentition are apparently normal. No family history of similar complaints. Next generation DNA sequencing peripheral blood sample has revealed the presence of the heterozygous variant c.613C>G in the COL1A1 gene. This variant is being called a “variant of unknown significance” based on available evidence in the databases and in silico mutation prediction methods. Kindly correlate with the family history and clinical details.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082142	SCV000627273	benign	Osteogenesis imperfecta type I	2024-02-01	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659348	SCV000781159	uncertain significance	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224220	SCV000883626	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000224220	SCV001143192	benign	not provided	2019-07-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001124960	SCV001283980	likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000487429	SCV001283981	likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001124961	SCV001283982	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000224220	SCV001753692	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30715774, 27884173, 8079666)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000487429	SCV002564745	benign	Osteogenesis imperfecta	2022-01-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277557	SCV002565536	benign	Ehlers-Danlos syndrome	2022-03-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354572	SCV002661334	likely benign	Cardiovascular phenotype	2019-02-01	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.
CeGaT Center for Human Genetics Tuebingen	RCV000224220	SCV004140817	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	COL1A1: BS1, BS2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000203035	SCV004242865	uncertain significance	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV000487429	SCV004812751	benign	Osteogenesis imperfecta	2024-01-05	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV000224220	SCV005197557	likely benign	not provided	2022-05-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000224220	SCV001807542	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000203035	SCV001930250	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224220	SCV001973024	likely benign	not provided		no assertion criteria provided	clinical testing