ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.582G>A (p.Leu194=)

gnomAD frequency: 0.00001  dbSNP: rs771223960
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228492 SCV000290700 likely benign Walker-Warburg congenital muscular dystrophy 2024-07-22 criteria provided, single submitter clinical testing
Counsyl RCV000669233 SCV000793964 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2017-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619230 SCV005118143 likely benign Cardiovascular phenotype 2024-05-25 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.
Natera, Inc. RCV000669233 SCV002088964 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-05-26 no assertion criteria provided clinical testing

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