ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) (rs374073337)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489699 SCV000576879 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing The R430C variant in the DYNC2H1 gene has been reported in a patient with short rib polydactyly syndrome; the variant was maternally inherited and in cis with another variant and in trans with a third paternally inherited variant (El Hokayem et al., 2012). The R430C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R430C variant is a non-conservative amino acid substitution, which occurs at a position where amino acids with similar properties to Arginine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R430C as a variant of uncertain significance.

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