ClinVar Miner

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

gnomAD frequency: 0.00011  dbSNP: rs374440380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Invitae RCV001399243 SCV001601028 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374853 SCV002667539 likely benign Inborn genetic diseases 2017-12-04 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.

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