ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter)

dbSNP: rs2048322542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335828 SCV001529069 likely pathogenic Intellectual disability, autosomal dominant 13 2018-07-25 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Neuberg Centre For Genomic Medicine, NCGM RCV001335828 SCV002820148 likely pathogenic Intellectual disability, autosomal dominant 13 criteria provided, single submitter clinical testing This variant has been submitted to the ClinVar database as a Likely Pathogenic variant detected in de novo state in a patient with Autosomal Dominant Mental Retardation. It has not been reported previously in literature The nucleotide change in DYNC1H1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The gene is intolerant to loss of function variants. This variant is classified as Likely pathogenic as per ACMG guidelines.

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