ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu)

dbSNP: rs905098104
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551560 SCV000651683 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2023-08-04 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 3134 of the DYNC1H1 protein (p.Pro3134Leu). This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 472565). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. 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.

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