ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)

dbSNP: rs200700087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071334 SCV001236630 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001772307 SCV001994625 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002554624 SCV003555630 uncertain significance Inborn genetic diseases 2020-12-18 criteria provided, single submitter clinical testing The c.4768G>C (p.D1590H) alteration is located in exon 23 (coding exon 23) of the DYNC1H1 gene. This alteration results from a G to C substitution at nucleotide position 4768, causing the aspartic acid (D) at amino acid position 1590 to be replaced by a histidine (H). The in silico prediction for the p.D1590H alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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