ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4556T>C (p.Val1519Ala)

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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 RCV005326962 SCV005999014 uncertain significance Inborn genetic diseases 2025-01-31 criteria provided, single submitter clinical testing The c.4556T>C (p.V1519A) alteration is located in exon 30 (coding exon 30) of the DYNC2H1 gene. This alteration results from a T to C substitution at nucleotide position 4556, causing the valine (V) at amino acid position 1519 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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