ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9209C>T (p.Pro3070Leu)

dbSNP: rs2152589194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005094658 SCV005810505 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2024-08-28 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 3070 of the DYNC1H1 protein (p.Pro3070Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with DYNC1H1-related conditions (PMID: 34580403). ClinVar contains an entry for this variant (Variation ID: 1164040). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DYNC1H1 protein function with a positive 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.
Pediatric Genetics Clinic, Sheba Medical Center RCV001788522 SCV001712172 likely pathogenic Intellectual disability, autosomal dominant 13 2021-05-13 no assertion criteria provided clinical testing

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