Submissions for variant NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp)

gnomAD frequency: 0.00209  dbSNP: rs115108794

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000645494	SCV000767240	likely benign	Osteogenesis imperfecta type 8	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001097773	SCV001254083	uncertain significance	Osteogenesis Imperfecta, Recessive	2017-04-28	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000645494	SCV001472872	likely benign	Osteogenesis imperfecta type 8	2023-05-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001672913	SCV001886530	benign	not provided	2020-07-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26634552)
PreventionGenetics, part of Exact Sciences	RCV003905744	SCV004725795	benign	P3H1-related disorder	2019-08-05	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).