ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.649C>A (p.Pro217Thr)

dbSNP: rs2122620422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733724 SCV001984550 uncertain significance Muscular dystrophy-dystroglycanopathy type B5 2021-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002032740 SCV002224107 uncertain significance Walker-Warburg congenital muscular dystrophy 2023-05-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 217 of the FKRP protein (p.Pro217Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with FKRP-related conditions (PMID: 11592034). ClinVar contains an entry for this variant (Variation ID: 1301775). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FKRP protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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