ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4576C>A (p.Gln1526Lys)

gnomAD frequency: 0.00038  dbSNP: rs201162989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001486570 SCV001691030 likely benign Jeune thoracic dystrophy 2024-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562708 SCV003533847 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.4576C>A (p.Q1526K) alteration is located in exon 30 (coding exon 30) of the DYNC2H1 gene. This alteration results from a C to A substitution at nucleotide position 4576, causing the glutamine (Q) at amino acid position 1526 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004719162 SCV005325575 uncertain significance not provided 2023-11-28 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

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