ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)

gnomAD frequency: 0.00001  dbSNP: rs749973847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811286 SCV000951544 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424904 SCV002744113 uncertain significance Inborn genetic diseases 2017-09-20 criteria provided, single submitter clinical testing The p.G89S variant (also known as c.265G>A), located in coding exon 2 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 265. The glycine at codon 89 is replaced by serine, 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.

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