ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13106C>T (p.Thr4369Met)

dbSNP: rs1290022379
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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 RCV002318335 SCV000851733 uncertain significance Inborn genetic diseases 2017-05-26 criteria provided, single submitter clinical testing The p.T4369M variant (also known as c.13106C>T), located in coding exon 73 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 13106. The threonine at codon 4369 is replaced by methionine, an amino acid with similar properties. This amino acid position is 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.
GeneDx RCV001772020 SCV002003890 uncertain significance not provided 2021-04-12 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
Invitae RCV003528222 SCV004282097 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-09-22 criteria provided, single submitter clinical testing

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