ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12916A>C (p.Asn4306His) (rs200264343)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658072 SCV000779843 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing The N4313H variant in the DYNC2H1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N4313H variant is observed in 14/29,936 (0.046%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). The N4313H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret N4313H as a variant of uncertain significance.

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