ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.2194G>A (p.Val732Ile)

gnomAD frequency: 0.00019  dbSNP: rs370906388
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768267 SCV002008784 uncertain significance not provided 2019-08-02 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003586311 SCV004304328 likely benign Jeune thoracic dystrophy 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040735 SCV004860388 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.2194G>A (p.V732I) alteration is located in exon 15 (coding exon 15) of the DYNC2H1 gene. This alteration results from a G to A substitution at nucleotide position 2194, causing the valine (V) at amino acid position 732 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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