ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1140G>A (p.Gly380=)

gnomAD frequency: 0.00006  dbSNP: rs552260353
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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 RCV000194696 SCV000247377 uncertain significance not specified 2015-07-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725091 SCV000333939 uncertain significance not provided 2015-09-16 criteria provided, single submitter clinical testing
Invitae RCV001087598 SCV000755362 likely benign Walker-Warburg congenital muscular dystrophy 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453706 SCV002614390 likely benign Cardiovascular phenotype 2019-09-06 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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