ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9262C>T (p.Pro3088Ser)

gnomAD frequency: 0.00004  dbSNP: rs764931443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794571 SCV002032382 uncertain significance not provided 2021-04-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002541269 SCV003721384 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.9262C>T (p.P3088S) alteration is located in exon 59 (coding exon 59) of the DYNC2H1 gene. This alteration results from a C to T substitution at nucleotide position 9262, causing the proline (P) at amino acid position 3088 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001794571 SCV005191490 uncertain significance not provided criteria provided, single submitter not provided

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