Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522772 | SCV000618419 | likely pathogenic | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | The D222V variant in the SMS gene has not been reported previously as a pathogenic variant, nor as abenign variant, to our knowledge. The D222V variant is not observed at a significant frequency inlarge population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome VariantServer). The D222V variant is a non-conservative amino acid substitution, which is likely to impactsecondary protein structure as these residues differ in polarity, charge, size and/or other properties.This substitution occurs at a position that is conserved across species. In silico analysis predicts thisvariant is probably damaging to the protein structure/function. We interpret D222V as a likelypathogenic variant. |
Genome |
RCV000509103 | SCV000607250 | not provided | SMS-Related Disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |