Submissions for variant NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)

gnomAD frequency: 0.00087  dbSNP: rs147266928

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703567	SCV000517108	likely benign	not provided	2021-01-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25146735, 23692737, 24618965, 25834947)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085772	SCV000627263	benign	Osteogenesis imperfecta type I	2024-01-05	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659364	SCV000781175	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001703567	SCV000885214	likely benign	not provided	2023-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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 Laboratory Services, 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 Laboratory Services, Illumina	RCV001127266	SCV001286558	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). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001123188	SCV002564737	likely benign	Osteogenesis imperfecta	2021-08-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278663	SCV002565533	likely benign	Ehlers-Danlos syndrome	2021-12-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328934	SCV002629450	likely benign	Cardiovascular phenotype	2019-03-21	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.
CeGaT Center for Human Genetics Tuebingen	RCV001703567	SCV004699260	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	COL1A1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001703567	SCV005218115	likely benign	not provided		criteria provided, single submitter	not provided