ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.483C>T (p.Ala161=)

gnomAD frequency: 0.00002  dbSNP: rs797045576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193165 SCV000247381 uncertain significance not specified 2015-05-21 criteria provided, single submitter clinical testing
Counsyl RCV000674471 SCV000799813 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001496128 SCV001700819 likely benign Walker-Warburg congenital muscular dystrophy 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327026 SCV002634065 likely benign Cardiovascular phenotype 2020-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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