Submissions for variant NM_213720.3(CHCHD10):c.268A>C (p.Thr90Pro)

gnomAD frequency: 0.05840  dbSNP: rs767301039

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001652631	SCV001865781	benign	not provided	2019-08-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002440829	SCV002745312	likely benign	Inborn genetic diseases	2020-01-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001652631	SCV005277030	benign	not provided		criteria provided, single submitter	not provided
Labcorp Genetics (formerly Invitae), Labcorp	RCV005225447	SCV005868710	benign	Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance	2024-03-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975806	SCV004794770	benign	CHCHD10-related disorder	2019-09-10	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).