ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2768C>T (p.Thr923Met)

gnomAD frequency: 0.00003  dbSNP: rs760518511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223952 SCV001396123 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436871 SCV002750384 uncertain significance Inborn genetic diseases 2021-02-02 criteria provided, single submitter clinical testing The p.T923M variant (also known as c.2768C>T), located in coding exon 10 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 2768. The threonine at codon 923 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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