Submissions for variant NM_000183.3(HADHB):c.811+1G>A

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002302450	SCV002598574	likely pathogenic	Mitochondrial trifunctional protein deficiency	2022-09-26	criteria provided, single submitter	clinical testing	Variant summary: HADHB c.811+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 251350 control chromosomes. To our knowledge, no occurrence of c.811+1G>A in individuals affected with Mitochondrial Trifunctional Protein Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics	RCV002302450	SCV004191809	likely pathogenic	Mitochondrial trifunctional protein deficiency	2023-10-18	criteria provided, single submitter	clinical testing