ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)

gnomAD frequency: 0.00003  dbSNP: rs369666163
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547216 SCV000630835 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 480 of the FKRP protein (p.Asn480Ile). This variant is present in population databases (rs369666163, 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: 459231). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Eurofins Ntd Llc (ga) RCV000596182 SCV000702178 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000596182 SCV001713826 uncertain significance not provided 2019-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000596182 SCV001782642 uncertain significance not provided 2024-10-30 criteria provided, single submitter clinical testing Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27439679)
Ambry Genetics RCV002395327 SCV002699327 uncertain significance Cardiovascular phenotype 2024-02-25 criteria provided, single submitter clinical testing The p.N480I variant (also known as c.1439A>T), located in coding exon 1 of the FKRP gene, results from an A to T substitution at nucleotide position 1439. The asparagine at codon 480 is replaced by isoleucine, an amino acid with dissimilar properties. This alteration has been reported in an autism spectrum disorders cohort (Mercati O et al. Mol Psychiatry, 2017 04;22:625-633). This amino acid position is well 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 RCV002497081 SCV002797697 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 2021-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000596182 SCV003832624 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834761 SCV002091357 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-10-29 no assertion criteria provided clinical testing

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