Submissions for variant NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)

gnomAD frequency: 0.00237  dbSNP: rs551521196

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579805	SCV000521333	likely benign	not provided	2021-04-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25155093, 27056076, 25576308, 26344877, 26152333, 26362909, 26362910, 25953780, 25726362, 25833818, 26666268, 27810918, 28069311, 29315381, 28108040, 27095681, 30014597, 27578015, 27077676, 30293881, 29525180, 29789341, 32651855)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000533214	SCV000653007	likely benign	Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance	2025-02-03	criteria provided, single submitter	clinical testing
Mendelics	RCV000990379	SCV001141337	benign	Lower motor neuron syndrome with late-adult onset	2019-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433830	SCV002747667	likely benign	Inborn genetic diseases	2021-10-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV001579805	SCV004152277	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	CHCHD10: BS2
Molecular Genetics, Royal Melbourne Hospital	RCV003993872	SCV004812719	likely benign	Autosomal dominant mitochondrial myopathy with exercise intolerance	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 0.3428% (rs551521196, 259/67998 alleles, 0 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as LIKELY BENIGN. Following criteria are met: BS1
GeneReviews	RCV000192231	SCV000239869	not provided	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		no assertion provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579805	SCV001808575	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579805	SCV001928948	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955119	SCV004772051	likely benign	CHCHD10-related disorder	2019-08-07	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).