Submissions for variant NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)

gnomAD frequency: 0.00016  dbSNP: rs375914028

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000377775	SCV000332062	benign	not specified	2015-06-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000631511	SCV000752593	benign	Osteogenesis imperfecta type I	2025-01-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001124861	SCV001283862	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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001124862	SCV001283863	uncertain significance	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 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.
Illumina Laboratory Services, Illumina	RCV001124863	SCV001283864	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	RCV001711850	SCV001941272	likely benign	not provided	2020-12-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21884818)
CeGaT Center for Human Genetics Tuebingen	RCV001711850	SCV002545949	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	COL1A1: BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001124861	SCV002565115	likely benign	Osteogenesis imperfecta	2021-10-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278262	SCV002565460	likely benign	Ehlers-Danlos syndrome	2022-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411144	SCV002721392	benign	Cardiovascular phenotype	2020-07-21	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.
PreventionGenetics, part of Exact Sciences	RCV004547656	SCV004737143	likely benign	COL1A1-related disorder	2019-05-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).