Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150641 | SCV000197978 | uncertain significance | not specified | 2011-08-23 | criteria provided, single submitter | clinical testing | The 1415-9A>G variant has not been previously reported in the literature nor bee n identified by our laboratory. The number of individuals sequenced by our labor atory is small and healthy control data is not available such that we cannot exc lude that this variant is common. Of note, it is unclear whether this variant is intronic or affects the protein. Based on the available reference sequence (NM_ 000501.2), this variant affects the splice consensus sequence at position -9. Va riants at this position sometimes have an effect on splicing. On the other hand Tassabehji et al. 1997 reported a transcript (hg19 chr7: g.73474198-73474378), w hich includes this position as a coding base. In this case the variant would lea d to an Asn475Ser change. In summary, additional data is required to determine t he clinical significance of this variant. |
Gene |
RCV000150641 | SCV000518986 | likely benign | not specified | 2015-09-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |