ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8087A>G (p.His2696Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005326945 SCV005998988 uncertain significance Inborn genetic diseases 2024-12-31 criteria provided, single submitter clinical testing The c.8087A>G (p.H2696R) alteration is located in exon 49 (coding exon 49) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 8087, causing the histidine (H) at amino acid position 2696 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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