ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)

gnomAD frequency: 0.00001  dbSNP: rs1181756021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224809 SCV001397032 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379853 SCV002696052 uncertain significance Inborn genetic diseases 2021-06-12 criteria provided, single submitter clinical testing The p.A4551V variant (also known as c.13652C>T), located in coding exon 76 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 13652. The alanine at codon 4551 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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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