ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6625A>T (p.Thr2209Ser)

gnomAD frequency: 0.00041  dbSNP: rs200762072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414720 SCV000491989 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002058868 SCV002396624 likely benign Jeune thoracic dystrophy 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523953 SCV003638460 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.6625A>T (p.T2209S) alteration is located in exon 41 (coding exon 41) of the DYNC2H1 gene. This alteration results from a A to T substitution at nucleotide position 6625, causing the threonine (T) at amino acid position 2209 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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