ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile)

gnomAD frequency: 0.00001  dbSNP: rs760230019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173856 SCV001336972 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV002464403 SCV002759171 uncertain significance not provided 2022-06-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter 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)
Ambry Genetics RCV002559669 SCV003560926 uncertain significance Inborn genetic diseases 2021-07-08 criteria provided, single submitter clinical testing The c.4264G>A (p.V1422I) alteration is located in exon 20 (coding exon 20) of the DYNC1H1 gene. This alteration results from a G to A substitution at nucleotide position 4264, causing the valine (V) at amino acid position 1422 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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