ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val)

dbSNP: rs730880031
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696857 SCV005197473 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing
OMIM RCV000157070 SCV000206795 pathogenic Lower motor neuron syndrome with late-adult onset 2015-01-01 no assertion criteria provided literature only
GeneReviews RCV001731148 SCV000239871 not provided Autosomal dominant mitochondrial myopathy with exercise intolerance no assertion provided literature only Founder variant in Finnish population, associated with late-onset SMN (spinal motor neuropathy) or SMAJ (spinal muscular atrophy, Jokela type) and axonal CMT (Charcot-Marie-Tooth) disease
Solve-RD Consortium RCV000157070 SCV005091492 likely pathogenic Lower motor neuron syndrome with late-adult onset 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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