ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9580A>G (p.Thr3194Ala)

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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 RCV004617299 SCV005112424 uncertain significance Inborn genetic diseases 2024-06-03 criteria provided, single submitter clinical testing The c.9580A>G (p.T3194A) alteration is located in exon 62 (coding exon 62) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 9580, causing the threonine (T) at amino acid position 3194 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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