ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.-39-2934_564del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464629 SCV000548443 pathogenic Walker-Warburg congenital muscular dystrophy 2016-05-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing at least a portion of the gene up to and including part of exon 4 of the FKRP gene, which includes the initiator codon. The 3' boundary is confined to nucleotide 564 of the FKRP gene. This is expected to lead to an absent or truncated protein. While this particular variant has not been reported in the literature, truncating variants in FKRP are known to be pathogenic (PMID: 12707425). For these reasons, this variant has been classified as Pathogenic.

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