ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)

dbSNP: rs886044183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726333 SCV000343843 pathogenic not provided 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000461986 SCV000548520 pathogenic Walker-Warburg congenital muscular dystrophy 2022-07-12 criteria provided, single submitter clinical testing This variant disrupts a region of the FKRP protein in which other variant(s) (p.Ala455Asp) have been determined to be pathogenic (PMID: 14652796, 16368217, 18671187, 23420653, 23894383). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 289473). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu324*) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 172 amino acid(s) of the FKRP protein.
Counsyl RCV000282481 SCV000800100 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2018-05-22 criteria provided, single submitter clinical testing

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