ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)

gnomAD frequency: 0.00006  dbSNP: rs547205132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235855 SCV000293760 likely benign not specified 2017-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000235855 SCV000603393 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV000649539 SCV000771368 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379050 SCV002693553 uncertain significance Inborn genetic diseases 2020-01-16 criteria provided, single submitter clinical testing The p.A4358T variant (also known as c.13072G>A), located in coding exon 73 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 13072. The alanine at codon 4358 is replaced by threonine, 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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