Submissions for variant NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)

gnomAD frequency: 0.80779  dbSNP: rs42524

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244604	SCV000302007	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269609	SCV000470591	benign	Ehlers-danlos syndrome, arthrochalasia type, 2	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	RCV000323983	SCV000470592	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.
GeneDx	RCV000244604	SCV000516229	benign	not specified	2016-03-03	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244604	SCV000538714	benign	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Athena Diagnostics Inc	RCV000244604	SCV000612915	benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
Mendelics	RCV000987925	SCV001137419	benign	Ehlers-Danlos syndrome, classic type	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812668	SCV001156702	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Invitae	RCV001512869	SCV001720359	benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000269609	SCV001821878	benign	Ehlers-danlos syndrome, arthrochalasia type, 2	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589218	SCV001821879	benign	Osteogenesis imperfecta, recessive perinatal lethal	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589216	SCV001821880	benign	Osteogenesis imperfecta type III	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589217	SCV001821881	benign	Osteogenesis imperfecta with normal sclerae, dominant form	2021-07-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000323983	SCV002564776	benign	Osteogenesis imperfecta	2022-07-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277599	SCV002565563	benign	Ehlers-Danlos syndrome	2022-07-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392755	SCV002704014	benign	Cardiovascular phenotype	2018-12-04	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000244604	SCV001739729	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000244604	SCV001808434	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000244604	SCV001954506	benign	not specified		no assertion criteria provided	clinical testing