ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)

dbSNP: rs1555738502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672053 SCV000797112 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2018-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868261 SCV002147558 pathogenic Walker-Warburg congenital muscular dystrophy 2021-12-02 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.Ala455Asp) have been determined to be pathogenic (PMID: 14652796, 15574464, 16368217, 18671187, 19955119, 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 556102). 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.Arg176*) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 320 amino acid(s) of the FKRP protein.
Baylor Genetics RCV003459634 SCV004197417 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-07-22 criteria provided, single submitter clinical testing

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