ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter) (rs1060502109)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461046 SCV000548517 pathogenic Walker-Warburg congenital muscular dystrophy 2016-08-01 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the FKRP mRNA at codon 361 (p.Tyr361*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated FKRP protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FKRP-related disease. A different truncating mutation (p.Ser385*) that is downstream of this variant at codon 361 has been reported as pathogenic in a family affected with congenital muscular dystrophy (PMID: 11592034). In addition, a missense substitution (p.Ala455Asp) which is downstream of this codon 361 variant has been reported to be deleterious in patients affected with congenital muscular dystrophy (PMID: 14652796, 22908982, 15574464). These data indicate that the integrity of protein sequences downstream of codon 361 are important for FKRP protein function. For these reasons, this variant has been classified as Pathogenic.

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