ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1141dup (p.Ala381fs) (rs754403441)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672422 SCV000797526 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2018-02-05 criteria provided, single submitter clinical testing
Invitae RCV000688076 SCV000815673 pathogenic Walker-Warburg congenital muscular dystrophy 2018-01-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKRP gene (p.Ala381Glyfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 115 amino acids of the FKRP protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in combination with another FKRP variant in an individual affected with limb girdle muscular dystrophy (PMID: 26436962). This variant is also known as c.1140_1141insG in the literature. A different truncation (p.Ser385*) that lies downstream of this variant has been determined to be pathogenic (PMID: 11592034, 14742276, 12707425, 12666124). This suggests that deletion of this region of the FKRP protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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