ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=) (rs772002773)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756048 SCV000883758 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing The DYNC1H1 c.8097A>G; p.Thr2699Thr variant (rs772002773), to our knowledge, is not reported in the medical literature or gene specific databases. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. This variant is found in the general population with an overall allele frequency of 0.006 % (18 / 277246 alleles) in the Genome Aggregation Database. Due to limited information, the clinical significance of the p.Thr2699Thr variant is uncertain at this time.
Invitae RCV001082695 SCV001008654 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing

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