ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3271G>C (p.Asp1091His)

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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 RCV004617307 SCV005112433 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.3271G>C (p.D1091H) alteration is located in exon 22 (coding exon 22) of the DYNC2H1 gene. This alteration results from a G to C substitution at nucleotide position 3271, causing the aspartic acid (D) at amino acid position 1091 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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