ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)

dbSNP: rs759875552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178354 SCV000230420 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
Invitae RCV000548844 SCV000630844 likely pathogenic Walker-Warburg congenital muscular dystrophy 2023-03-09 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FKRP protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 197342). This missense change has been observed in individual(s) with clinical features of limb girdle muscular dystrophy (PMID: 18832576, 24257234, 32429923; Invtiae, external communication). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 196 of the FKRP protein (p.Gly196Arg).
Counsyl RCV000674993 SCV000800415 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2018-06-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492782 SCV002789518 uncertain significance 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 2021-09-01 criteria provided, single submitter clinical testing

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