ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.675del (p.Thr226fs)

dbSNP: rs886043706
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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) RCV000346543 SCV000341594 pathogenic not provided 2016-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001218316 SCV001390191 pathogenic Walker-Warburg congenital muscular dystrophy 2023-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FKRP protein in which other variant(s) (p.Ser385*) have been determined to be pathogenic (PMID: 11592034, 12666124, 12707425, 14742276). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 287717). 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.Thr226Profs*13) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 270 amino acid(s) of the FKRP protein.
Counsyl RCV000673066 SCV000798233 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2018-03-09 no assertion criteria provided clinical testing

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