ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4542+6G>A

gnomAD frequency: 0.00001  dbSNP: rs375822798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502278 SCV000594415 uncertain significance not specified 2016-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001365960 SCV001562246 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2020-07-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DYNC1H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 434971). This variant is present in population databases (rs375822798, ExAC 0.04%). This sequence change falls in intron 21 of the DYNC1H1 gene. It does not directly change the encoded amino acid sequence of the DYNC1H1 protein, but it affects a nucleotide within the consensus splice site of the intron.
Ambry Genetics RCV002341185 SCV002636552 likely benign Inborn genetic diseases 2021-05-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV003884575 SCV004702139 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing DYNC1H1: BP4, BS2

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