ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)

gnomAD frequency: 0.00755  dbSNP: rs111527940
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543253 SCV000653011 benign Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001653911 SCV001867730 benign not provided 2018-08-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27095681, 25726362)
CeGaT Center for Human Genetics Tuebingen RCV001653911 SCV002544702 benign not provided 2023-11-01 criteria provided, single submitter clinical testing CHCHD10: BP4, BP7, BS1, BS2
Ambry Genetics RCV002448775 SCV002732671 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003980009 SCV004786534 benign CHCHD10-related condition 2019-06-13 criteria provided, single submitter 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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579619 SCV001807911 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579619 SCV001923725 benign not specified no assertion criteria provided clinical testing

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