ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)

gnomAD frequency: 0.00002  dbSNP: rs566204008
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039887 SCV001203437 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001569151 SCV001793160 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372766 SCV002671867 uncertain significance Inborn genetic diseases 2021-11-07 criteria provided, single submitter clinical testing The p.A2409T variant (also known as c.7225G>A), located in coding exon 35 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 7225. The alanine at codon 2409 is replaced by threonine, 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.
PreventionGenetics, part of Exact Sciences RCV003396639 SCV004118844 uncertain significance DYNC1H1-related condition 2022-10-19 criteria provided, single submitter clinical testing The DYNC1H1 c.7225G>A variant is predicted to result in the amino acid substitution p.Ala2409Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-102482751-G-C). This variant is classified as likely benign/uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/220931/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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