ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12387C>G (p.Ser4129Arg)

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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 RCV004974746 SCV005576556 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.12408C>G (p.S4136R) alteration is located in exon 86 (coding exon 86) of the DYNC2H1 gene. This alteration results from a C to G substitution at nucleotide position 12408, causing the serine (S) at amino acid position 4136 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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