ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.948del (p.Cys317fs) (rs748798133)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822337 SCV000963135 pathogenic Walker-Warburg congenital muscular dystrophy 2019-05-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKRP gene (p.Cys317Alafs*111). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 179 amino acids of the FKRP protein. This variant is present in population databases (rs748798133, ExAC 0.09%). This variant has been observed in several individuals and families affected with limb girdle muscular dystrophy (PMID: 27439679, 23800702, 28931339). This variant disrupts the p.Ala455 amino acid residue in FKRP. A variant that disrupt this residue has been observed in affected individuals (PMID: 14652796, 18671187, 23420653, 16368217, 23894383, 15574464, 19955119), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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