Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000507445 | SCV000605059 | uncertain significance | Charcot-Marie-Tooth disease, type 4B3 | 2019-07-22 | criteria provided, single submitter | clinical testing | The SBF1 c.3157C>T; p.Arg1053Trp variant (rs202156491) is reported in the literature without association to disease in a family studied by exome sequencing (Corpas 2015). This variant is reported in ClinVar (Variation ID: 440252) and is found in the Ashkenazi Jewish population with an overall allele frequency of 1.5% (143/9846 alleles) in the Genome Aggregation Database. The arginine at codon 1053 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Arg1053Trp variant is uncertain at this time. References: Corpas M et al. Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics. 2015 Nov 7;16:910. |
Invitae | RCV000885103 | SCV001028529 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing |