Submissions for variant NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu)

gnomAD frequency: 0.00005  dbSNP: rs370234887

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000878240	SCV001155141	uncertain significance	not provided	2017-08-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001159495	SCV001321213	benign	Osteogenesis imperfecta	2017-05-10	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	RCV001159496	SCV001321214	benign	Ehlers-danlos syndrome, arthrochalasia type, 2	2017-05-10	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.
Invitae	RCV002235943	SCV001681503	likely benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2022-08-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000878240	SCV001777301	uncertain significance	not provided	2023-06-20	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (HGMD)
Ambry Genetics	RCV002346040	SCV002643390	benign	Cardiovascular phenotype	2021-04-01	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.