Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |