ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.551C>T (p.Ala184Val)

gnomAD frequency: 0.00001  dbSNP: rs1489408026
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796018 SCV000935508 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 184 of the FKRP protein (p.Ala184Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 642538). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002345755 SCV002653569 uncertain significance Cardiovascular phenotype 2023-10-27 criteria provided, single submitter clinical testing The p.A184V variant (also known as c.551C>T), located in coding exon 1 of the FKRP gene, results from a C to T substitution at nucleotide position 551. The alanine at codon 184 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002495044 SCV002787693 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 2021-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272541 SCV001454633 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-09-16 no assertion criteria provided clinical testing

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