ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met)

gnomAD frequency: 0.00001  dbSNP: rs749548033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649553 SCV000771382 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358867 SCV002624942 uncertain significance Inborn genetic diseases 2022-07-22 criteria provided, single submitter clinical testing The p.V124M variant (also known as c.370G>A), located in coding exon 3 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 370. The valine at codon 124 is replaced by methionine, an amino acid with highly 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.

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