ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)

dbSNP: rs1057518961
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414777 SCV000493024 likely pathogenic Global developmental delay; Seizure; Delayed speech and language development; Microcephaly; Delayed gross motor development 2014-06-06 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198404 SCV001369331 likely pathogenic Charcot-Marie-Tooth disease axonal type 2O 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Ambry Genetics RCV001267559 SCV001445740 pathogenic Inborn genetic diseases 2019-08-19 criteria provided, single submitter clinical testing
Invitae RCV001198404 SCV003442718 pathogenic Charcot-Marie-Tooth disease axonal type 2O 2022-09-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYNC1H1 protein function. ClinVar contains an entry for this variant (Variation ID: 374190). This missense change has been observed in individual(s) with autosomal dominant intellectual disability (PMID: 25590979, 27754416, 29286531). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2332 of the DYNC1H1 protein (p.Arg2332Cys).
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223402 SCV003919013 pathogenic Intellectual disability, autosomal dominant 13 2023-04-20 criteria provided, single submitter research
Inherited Neuropathy Consortium Ii, University Of Miami RCV001198404 SCV004174362 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2016-01-06 no assertion criteria provided literature only

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