ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=) (rs374440380)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000757192 SCV000559796 likely benign not provided 2016-11-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757192 SCV000885330 likely benign not provided 2018-02-15 criteria provided, single submitter clinical testing The c.657G>A variant (rs374440380) does not alter the amino acid sequence of the DYNC1H1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with CMT in medical literature or in gene specific variation databases, and is classified as likely benign in ClinVar (ID: 415334). This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.008% (identified on 22 out of 277,216 chromosomes). Based on the available information, the c.657G>A variant is likely to be benign.

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