ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9227C>T (p.Pro3076Leu)

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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 RCV005326954 SCV005999003 uncertain significance Inborn genetic diseases 2024-12-31 criteria provided, single submitter clinical testing The c.9227C>T (p.P3076L) alteration is located in exon 58 (coding exon 58) of the DYNC2H1 gene. This alteration results from a C to T substitution at nucleotide position 9227, causing the proline (P) at amino acid position 3076 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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