ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.636G>A (p.Ala212=)

gnomAD frequency: 0.00060  dbSNP: rs370099812
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178352 SCV000230418 likely benign not specified 2014-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000178352 SCV000513040 likely benign not specified 2018-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000471527 SCV000559438 benign Walker-Warburg congenital muscular dystrophy 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000178352 SCV000613310 benign not specified 2017-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178352 SCV002065974 likely benign not specified 2017-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362913 SCV002658064 likely benign Cardiovascular phenotype 2019-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003422072 SCV004139819 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing FKRP: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003917660 SCV004746046 likely benign FKRP-related condition 2019-09-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000178352 SCV004803633 likely benign not specified 2024-01-22 criteria provided, single submitter clinical testing

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