ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)

dbSNP: rs1555738753
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669672 SCV000794448 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2017-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855524 SCV002228989 pathogenic Walker-Warburg congenital muscular dystrophy 2022-02-05 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.Leu452Cysfs*38) have been determined to be pathogenic (Invitae). 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: 554104). 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.Glu260*) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 236 amino acid(s) of the FKRP protein.
Fulgent Genetics, Fulgent Genetics RCV002499167 SCV002811001 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-11-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459613 SCV004197430 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-04-05 criteria provided, single submitter clinical testing

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