ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12920A>G (p.Gln4307Arg)

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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 RCV004979393 SCV005576266 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.12941A>G (p.Q4314R) alteration is located in exon 90 (coding exon 90) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 12941, causing the glutamine (Q) at amino acid position 4314 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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