Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554503 | SCV000630813 | likely pathogenic | Walker-Warburg congenital muscular dystrophy | 2019-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with cysteine at codon 371 of the FKTN protein (p.Tyr371Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs119464998, ExAC 0.01%). This variant has been reported to segregate with congenital muscular dystrophy in a family (PMID: 19179078) and has been reported in several affected individuals (PMID: 11165248, Invitae). ClinVar contains an entry for this variant (Variation ID: 3215). Experimental studies have shown that this missense change leads to the mislocalization of the FKTN protein into the endoplasmic reticulum (PMID: 17034757, 22275357). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Counsyl | RCV000675083 | SCV000800587 | uncertain significance | Fukuyama congenital muscular dystrophy | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000675083 | SCV001163213 | likely pathogenic | Fukuyama congenital muscular dystrophy | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000003370 | SCV000023528 | pathogenic | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | 2009-03-01 | no assertion criteria provided | literature only |