ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)

gnomAD frequency: 0.00003  dbSNP: rs201951207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821581 SCV000962343 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 23 of the FKRP protein (p.Tyr23Cys). This variant is present in population databases (rs201951207, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 663660). 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) performed at Invitae indicates that this missense variant is not expected to disrupt FKRP protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002363165 SCV002662964 uncertain significance Cardiovascular phenotype 2023-03-24 criteria provided, single submitter clinical testing The p.Y23C variant (also known as c.68A>G), located in coding exon 1 of the FKRP gene, results from an A to G substitution at nucleotide position 68. The tyrosine at codon 23 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002495174 SCV002790911 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 2022-01-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825661 SCV002088927 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-09-21 no assertion criteria provided clinical testing

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