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 2019-10-28 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 observed as homozygous or in combination with another FKRP variant in individuals affected with muscular dystrophy (PMID: 16368217, 17446099, 18691338, 18639457). ClinVar contains an entry for this variant (Variation ID: 551007). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Pro89 amino acid residue in FKRP. Other variant(s) that disrupt this residue have been observed in individuals with FKRP-related conditions (PMID: 17113772, 15833426), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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