ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) (rs104894680)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634067 SCV000755345 pathogenic Walker-Warburg congenital muscular dystrophy 2019-03-25 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKRP gene (p.Ser385*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 111 amino acids of the FKRP protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the compound heterozygous state in several individuals affected with congenital muscular dystrophy and limb girdle muscular dystrophy (PMID: 11592034, 14742276, 12707425, 12666124). This variant is also reported as Ser384* in the literature (PMID:12666124). ClinVar contains an entry for this variant (Variation ID: 4219). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004440 SCV000024613 pathogenic MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 2001-12-01 no assertion criteria provided literature only

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