ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12494C>T (p.Pro4165Leu)

dbSNP: rs1567022806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313556 SCV000848638 uncertain significance Inborn genetic diseases 2016-12-29 criteria provided, single submitter clinical testing The p.P4165L variant (also known as c.12494C>T), located in coding exon 69 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 12494. The proline at codon 4165 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002289996 SCV002578536 uncertain significance not provided 2022-04-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093)

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