ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)

dbSNP: rs770451110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957279 SCV002199411 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-11 criteria provided, single submitter clinical testing
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466275 SCV002761276 likely pathogenic Intellectual disability, autosomal dominant 13 2022-02-03 criteria provided, single submitter clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003126001 SCV003803820 uncertain significance Autism spectrum disorder criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587257 SCV005076919 uncertain significance not specified 2024-04-08 criteria provided, single submitter clinical testing Variant summary: DYNC1H1 c.12419G>A (p.Arg4140His) results in a non-conservative amino acid change located in the dynein heavy chain region D6 P-loop domain (IPR004273) of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251374 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.12419G>A has been reported in the literature in at least one individuals affected with clinical features of DYNC1H1-Related Disorders (e.g., Volodarsky_2021). However, these report(s) do not provide unequivocal conclusions about association of the variant with DYNC1H1-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 1424891). Based on the evidence outlined above, the variant was classified as uncertain significance.

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