Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001356747 | SCV003261511 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001356747 | SCV001552000 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The ABCA12 p.Arg1741Cys variant was not identified in the literature nor was it identified in ClinVar, Cosmic, or LOVD 3.0. The variant was identified in dbSNP (ID: rs141036904) and in control databases in 47 of 282662 chromosomes at a frequency of 0.000166 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 43 of 24956 chromosomes (freq: 0.001723), Latino in 3 of 35420 chromosomes (freq: 0.000085) and European (non-Finnish) in 1 of 129038 chromosomes (freq: 0.000008); it was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), Other, and South Asian populations. The p.Arg1741 residue is conserved across mammals and other organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |