ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3190G>A (p.Gly1064Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003149375 SCV003837149 uncertain significance not provided 2022-08-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004978798 SCV005576566 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.3190G>A (p.G1064S) alteration is located in exon 22 (coding exon 22) of the DYNC2H1 gene. This alteration results from a G to A substitution at nucleotide position 3190, causing the glycine (G) at amino acid position 1064 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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