Submissions for variant NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala)

gnomAD frequency: 0.00038  dbSNP: rs764381074

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000631503	SCV000752585	benign	Osteogenesis imperfecta type I	2024-10-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001584459	SCV001471081	likely benign	not provided	2019-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001584459	SCV001818372	likely benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing	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 (Stenson et al., 2014)
Ambry Genetics	RCV004992413	SCV005555226	uncertain significance	Cardiovascular phenotype	2024-10-05	criteria provided, single submitter	clinical testing	The p.P378A variant (also known as c.1132C>G), located in coding exon 17 of the COL1A1 gene, results from a C to G substitution at nucleotide position 1132. The proline at codon 378 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004547778	SCV004770850	likely benign	COL1A1-related disorder	2020-12-29	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).