Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000904394 | SCV001048908 | likely benign | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000701 | SCV001157741 | uncertain significance | Charcot-Marie-Tooth disease, type 4B3 | 2018-07-31 | criteria provided, single submitter | clinical testing | The SBF1 c.2255C>T; p.Thr752Met variant (rs188976869), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the African population with an overall allele frequency of 0.32% (78/24016 alleles) in the Genome Aggregation Database. The threonine at codon 752 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the c.2255C>T; p.Thr752Met variant is uncertain at this time. |