ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) (rs148206382)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000512944 SCV000603720 likely benign not provided 2017-05-18 criteria provided, single submitter clinical testing The p.Arg143Ser variant has been previously identified in association with muscular dystrophy (Brockington 2001 and Mendell 2012). However a recent evaluation of a Saudi Arabian sequencing cohort identified the p.Arg143Ser variant in 0.9 % of the cohort including 6 homozygous individuals and 1 or more homozygous individual did not have phenotype associated with FKRP (Abouelhoda 2016). Based on this high frequency and observance of the p.Arg143Ser variant in a homozygous state in individuals without muscular dystrophy, it has been classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512944 SCV000608913 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Counsyl RCV000672414 SCV000797516 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2018-01-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153241 SCV000202715 benign not specified 2014-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000153241 SCV000196823 likely benign not specified 2017-12-22 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.
Genetic Services Laboratory, University of Chicago RCV000153241 SCV000151163 likely benign not specified 2014-12-22 criteria provided, single submitter clinical testing
Invitae RCV000460164 SCV000559445 likely benign Walker-Warburg congenital muscular dystrophy 2017-12-27 criteria provided, single submitter clinical testing

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