ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)

dbSNP: rs2048038246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001095665 SCV001251432 likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 2019-10-16 criteria provided, single submitter clinical testing The variant was identified as de novo (maternity and paternity confirmed)
Institute of Human Genetics, University of Leipzig Medical Center RCV001253563 SCV001429345 likely pathogenic Intellectual disability, autosomal dominant 13 2019-10-16 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Labcorp Genetics (formerly Invitae), Labcorp RCV001856290 SCV002185717 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2022-09-12 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects DYNC1H1 function (PMID: 28196890). 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: 873447). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1057 of the DYNC1H1 protein (p.Tyr1057Cys).

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