ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3015+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1057522534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426443 SCV000528277 likely benign not specified 2016-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001223486 SCV001395638 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2024-01-22 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the DYNC1H1 gene. It does not directly change the encoded amino acid sequence of the DYNC1H1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 386561). Variants that disrupt 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 is not likely to affect RNA splicing. 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.
Ambry Genetics RCV002436309 SCV002753353 uncertain significance Inborn genetic diseases 2020-01-15 criteria provided, single submitter clinical testing The c.3015+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 11 in the DYNC1H1 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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