ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) (rs119464998)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554503 SCV000630813 likely pathogenic Walker-Warburg congenital muscular dystrophy 2018-05-17 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: 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
OMIM RCV000003370 SCV000023528 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 2009-03-01 no assertion criteria provided literature only

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