ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) (rs770711331)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665956 SCV000790174 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV000700227 SCV000828975 pathogenic Walker-Warburg congenital muscular dystrophy 2018-01-23 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 89 of the FKRP protein (p.Pro89Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs770711331, ExAC 0.005%). This variant has been reported as homozygous or in combination with another FKRP variant in individuals affected with muscular dystrophy (PMID: PMID:16368217, 17446099, 18691338, 18639457). Other missense substitutions at this codon (p.Pro89Arg and p.Pro89Ala) have been reported in individuals affected with muscular dystrophy (PMID: 15833426, 17113772). For these reasons, this variant has been classified as Pathogenic.

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