ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)

gnomAD frequency: 0.00227  dbSNP: rs138183274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550834 SCV000653014 benign Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001683583 SCV001899396 benign not provided 2019-01-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27095681)
Ambry Genetics RCV002324041 SCV002606554 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 RCV003925684 SCV004747448 benign CHCHD10-related condition 2019-07-08 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).

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