ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11365A>G (p.Ile3789Val)

dbSNP: rs1177877033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034529 SCV001197887 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-05-31 criteria provided, single submitter clinical testing
GeneDx RCV003313171 SCV004012533 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093)
Ambry Genetics RCV004030932 SCV004861254 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.11365A>G (p.I3789V) alteration is located in exon 60 (coding exon 60) of the DYNC1H1 gene. This alteration results from a A to G substitution at nucleotide position 11365, causing the isoleucine (I) at amino acid position 3789 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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