ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)

dbSNP: rs1057518888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415121 SCV000492828 likely benign Congenital cerebellar hypoplasia; High palate; Delayed puberty; Partial agenesis of the corpus callosum; Microcephaly; Small for gestational age; Abnormal cortical gyration; Hypoglycemic encephalopathy; Periventricular cysts 2015-08-07 criteria provided, single submitter clinical testing
Invitae RCV002521456 SCV002935424 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2547 of the DYNC1H1 protein (p.Pro2547Leu). 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: 374086). 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 not expected to disrupt DYNC1H1 protein function with a negative predictive value of 95%. 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.
Revvity Omics, Revvity RCV003144253 SCV003829186 uncertain significance not provided 2022-05-13 criteria provided, single submitter clinical testing

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