Submissions for variant NM_005005.3(NDUFB9):c.109T>C (p.Tyr37His)

gnomAD frequency: 0.00114  dbSNP: rs140417066

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000522472	SCV000618064	uncertain significance	not provided	2017-09-21	criteria provided, single submitter	clinical testing	The Y37H variant in the NDUFB9 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y37H variant is observed in 28/10398 (0.27%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The Y37H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret Y37H as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000522472	SCV001033402	likely benign	not provided	2024-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962445	SCV004776396	likely benign	NDUFB9-related disorder	2022-09-08	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).