ClinVar Miner

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

gnomAD frequency: 0.00359  dbSNP: rs148206382
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000153241 SCV000151163 likely benign not specified 2014-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000512944 SCV000196823 benign not provided 2019-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11741828, 16344347, 22451200, 16717227, 18832576, 27884173, 29065428, 28482373, 32403337)
Eurofins Ntd Llc (ga) RCV000153241 SCV000202715 benign not specified 2014-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081194 SCV000559445 likely benign Walker-Warburg congenital muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000512944 SCV000603720 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512944 SCV000608913 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing FKRP: BS2
Counsyl RCV000672414 SCV000797516 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2018-01-30 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852754 SCV000995472 benign Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing
Mendelics RCV000672414 SCV001141108 benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153241 SCV002103979 benign not specified 2024-01-29 criteria provided, single submitter clinical testing Variant summary: FKRP c.427C>A (p.Arg143Ser) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0052 in 1493634 control chromosomes in the gnomAD database (v4.0.0), including 31 homozygotes. The observed variant frequency is approximately 2 fold of the estimated maximal expected allele frequency for a pathogenic variant in FKRP causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive phenotype (0.0024), strongly suggesting that the variant is benign. c.427C>A has been reported in the literature in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive (examples: Sframeli_2017, Brockington_2001). These report(s) do not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Autosomal Recessive. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 28688748, 11741828). ClinVar contains an entry for this variant (Variation ID: 129057). Based on the evidence outlined above, the variant was classified as benign.
Ambry Genetics RCV002326812 SCV002630041 likely benign Cardiovascular phenotype 2018-12-26 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.
Fulgent Genetics, Fulgent Genetics RCV002498510 SCV002812635 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2022-04-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000512944 SCV005209714 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000672414 SCV002088951 benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2019-11-08 no assertion criteria provided clinical testing

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