ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9436A>G (p.Ser3146Gly)

dbSNP: rs2048470658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291696 SCV001480280 uncertain significance Intellectual disability, autosomal dominant 13 2019-10-10 criteria provided, single submitter clinical testing The c.9436A>G (p.Ser3146Gly) variant identified in the DYNC1H1 gene substitutes a conserved Serine for Glycine at amino acid 3146/4647 (coding exon 48/78). This variant is absent from gnomAD and ExAC, suggesting it is not a common benign variant in the populations represented in these databases. In silico algorithms predict this variant to be Neutral (Provean; score: -2.00) and Tolerated (SIFT; score: 0.099) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Ser3146 residue is within the large C-terminal motor domain of the protein in the 4th AAA module, which is important for ATP hydrolysis, and pathogenic missense variants have been reported within the AAA modules (for review [PMID: 26100331]). Given the lack of compelling evidence for its pathogenicity, the c.9436A>G (p.Ser3146Gly) variant identified in the DYNC1H1 gene is reported here as a Variant of Uncertain Significance.

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