ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)

gnomAD frequency: 0.00023  dbSNP: rs375767483
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000530411 SCV000385198 likely benign Charcot-Marie-Tooth disease axonal type 2O 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000352772 SCV000385199 likely benign Autosomal dominant cerebellar ataxia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001718643 SCV000512909 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Invitae RCV000530411 SCV000651613 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317836 SCV000851513 likely benign Inborn genetic diseases 2017-02-16 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174051 SCV001337171 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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