ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr)

dbSNP: rs747785577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591271 SCV000708077 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531091 SCV002985920 likely pathogenic Walker-Warburg congenital muscular dystrophy 2022-11-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FKRP-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Ala455 amino acid residue in FKRP. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 14652796, 16368217, 18671187, 23420653, 23894383). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 501628). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 455 of the FKRP protein (p.Ala455Thr).

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