ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg)

dbSNP: rs1206639344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002381908 SCV002689692 uncertain significance Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing The p.H4389R variant (also known as c.13166A>G), located in coding exon 73 of the DYNC1H1 gene, results from an A to G substitution at nucleotide position 13166. The histidine at codon 4389 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538888 SCV003469283 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-05-18 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000856992 SCV000999560 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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