Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Clinical Services Laboratory, |
RCV000262915 | SCV000358757 | likely benign | Distal spinal muscular atrophy, autosomal recessive 4 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Gene |
RCV000423998 | SCV000514178 | likely benign | not specified | 2018-01-08 | 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. |
| Invitae | RCV001082444 | SCV000646073 | likely benign | Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c | 2019-12-31 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV000527612 | SCV001147079 | uncertain significance | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001286042 | SCV001472562 | uncertain significance | none provided | 2019-09-13 | criteria provided, single submitter | clinical testing | The PLEKHG5 c.928G>A; p.Asp310Asn variant (rs61730399), to our knowledge, has not been reported in the medical literature; however, this variant is listed in the ClinVar database (Variation ID: 297961). This variant is found in the general population with an overall allele frequency of 0.25% (702/281,830 alleles; including 1 homozygote) in the Genome Aggregation Database. The aspartic acid at codon 310 is weakly conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, based on the available information, the clinical significance of this variant is uncertain. |